AUTHOR INDEX TO VOLUME 26

Note: All notices for conferences, symposia, and meetings are under one heading: ANNOUNCEMENTS

ABBOTT C M see WHITEHOUSE D B et at ARTHUR R J see AL-GAZALI L I et al ABBS S see HODGSON S et al ASSOCIATION OF CLINICAL CYTOGENETICISTS meeting, Edin- ABUELO D see KNISELY A S et al burgh, July 1988, abstracts 282 ADAM A see GOODMAN R M et al AUKET-T A see CLARKE M J et al ADENA M A Reproductive behaviour and consistent AWADI S A AL- see AL-AWADI S A patterns of abnormality in offspring of Viet- nam veterans: correspondence 602 BABU P S see JAYANTHI M et al ADES A see TEMPLE I K et al BACH G see GOODMAN R M et al AFFARA N A, CHAMBERS D, O'BRIEN J, HABEEBU S S M, BAKKER E, VEENEMA H, DEN DUNNEN J T, VAN BROECK- KALAITSIDAKI M, BISHOP C E, and HOVEN C, GROOTSCHOLTEN P M, BONTEN E J, FERGUSON-SMITH M A Distinguishable VAN OMMEN G J B, and PEARSON P L transcripts of the putative testis determining Germinal mosaicism increases the recur- sequences share homology with loci on rence risk for 'new' Duchenne muscular chromosomes X, Y, and 9 593 abst dystrophy mutations 553 see also HABEEBU S S M et al BALESTRIERI A see FIGUS A et al NEWMAN R S et al BALLABIO A see NEWMAN R S et al AITKEN D A, CROSSLEY J A, and CONNOR J M Prospective BALLO R, WALLIS C, WALLIS G, GOLDBLAITr J, and screening for autosomal trisomies in the west BEIGHTON P Linkage between X linked of Scotland using a combination of MSAFP deafness with stapes fixation and a cloned and age, July 1987 to June 1988 598 abst DNA sequence on the long arm of the X see also CROSSLEY J A et al chromosome 209 abst GLASS I A et al BAMFORTH F see KALSHEKER N et al AL-AWADI S A see FARAG T I et al BAMFORTH J S, HUGHES I A, LAZARUS J H, WEAVER C M, AL-GAZALI L see SAMPSON J R et al and HARPER P S Congenital hypothyroidism, AL-GAZALI L I, ARTHUR R J, LAMB J T, HAMMER H M, spiky hair, and cleft palate: case report 49 COKER T P, HIRSCHMANN P N, GIBBS J, and BANKIER A Hirschsprung's disease, distinctive facies, and MUELLER R F Diagnostic and counselling microcephaly: correspondence 287 difficulties using a fully comprehensive BARAITSER M see DUNTINX I and BARAITSER M screening protocol for families at risk for DONNAI D et al tuberous sclerosis 694 HARBORD M G et al AL-SAADi A A see WILSON G N and AL-SAADI A A HURST J A et al AL-SALEH Q A see TEEBI A S and AL-SALEH Q A HURST J A and BARAITSER M ALAM H see BUNDEY S et al PATTON M A et al ALBERTSON D see SHERRINGTON P et al PEMBREY M et al ALEXANDER J see HODGSON S et al REARDON W et al ALI H see JAYANTHI M et al TEMPLE IK and BARAITSER M ALI M M see JAYANTHI M et al THOMPSON E M et al ALIQUO' M C see BIANCO I et al WINTER R M et al ALLANSON J see DONNAI D et al BARBER J C K, MAHL H, PORTCH J, and CRAWFURD M D'A DOWMAN C et al Prenatal diagnosis of a familial interstitial LYTLE C et al deletion of llpl2 without phenotypic RICHTER S et al effect 283 abst ALLANSON J E see PEARSON M et al see also BRUETON L A et al ANDERSEN P E and HAUGE M Congenital generalised bone BARKAI G see GOODMAN R M et al dysplasias: a clinical, radiological, and BARRETT L see ENGLISH C J et al epidemiological survey 37 BARRON L and BROCK D J H Prospective prenatal screening ANDERSON-SHOTWELL S and WILSON W G 18p - syndrome for fetal abnormalities using a quantitative with partial sacral agenesis: corres- immunoassay for acetylcholinesterase 211 pondence 70 abst ANICHINI C see RIVERA H et al BARTON L MCALLISTER- see MCALLISTER-BARTON L AREIAS A see PINTO M R et al BEARD R W see REBELLO M T et al ARMSTRONG M J see NEVIN J et al ROONEY D E et al 801 802 Author index

BEECH R, RONA R J, SWAN A V, KAVANAGH F B, PRENTICE BOLTSHAUSER E, LANG W, SPILLMANN T, and Hop E L, WILSON 0 M, MOLE G, and VADERA P Hereditary distal muscular atrophy with Genetic services in the context of DNA vocal cord paralysis and sensorineural probes: what do they cost? 237 hearing loss: a dominant form of spinal see also RONA R J et al muscular atrophy? 105 BEIGHTON P Osteoglophonic dysplasia: syndrome of the BOMMER C see SPEER A et al month 572 BONNE-TAMIR B see GOODMAN R M et al see also BALLO R et al BONTEN E J see BAKKER E et al SAMPSON J R et al BORGHGRAEF M see CURFS L M G et al BEIGHTON P H see WALLIS C E and BEIGHTON P H BOUGHTON E see BUNDEY S and BOUGHTON T BELL J A, PEARN J H, and FIRMAN D Childhood deaths in BOXER M see MILLAN F A et al Down's syndrome. Survival curves and BOYD E see GLASS I A et al causes of death from a total population study LOUGHLIN S A R et al in Queensland, Australia, 1976 to 1985 764 MORRISON N et al BELLOTrI P see CHIARELLA F et al TOLMIE J et al BENDER K see WOLFF G et al YATES J R W et al BENNETr B see Ross K et al BOYDEN M see FINEGAN J K et al BENSON J W T see FENNELL S J et al BRACKENRIDGE I Chronic myeloid leukaemia trial BENTLEY D R see GREEN P M et al update 286 abst ROBERTS R G et al BREG W R see WATSON M S et al BERCIANO J see MALCOLM S et al BRETr E M see HARBORD M G et al BERGHE H VAN DEN see VAN DEN BERGHE H REARDON W et al BERGHE J VAN DEN see VAN DEN BERGHE J BRICARELLI F D see CHIARELLA F et al BERRICHE S see LUCOTTE G et al BRIDGEMAN G see TEMPLE I K et al BERRY A C see HURST J A et al BROADHEAD W see UPADHYAYA M et al LLERENA J et al BROCK D J H see BARRON L and BROCK D J H BEST P V see DEAN J C S et al CURTIS A et al BEVERSTOCK G C, MACFARLANE J D, VEENEMA H, HOEK- MCINTOSH I et al MAN H, and GOODFELLOW P J Y chromosome MILLAN F A et al specific probes identify breakpoint in a STRAIN L et al 45,X/46,X, del (Y) (pter--ql11l:) karyotype BROECKHOVEN C VAN see VAN BROECKHOVEN C of an infertile male: case report 330 BROOK F A see Copp A J and BROOK F A BHATE M S see ENGLISH C J et al BROOKES A J, SYKES B, and SOLOMON E Single base pair BHATTACHARYA S S see PAPIHA S S et al alterations as the predominant category of mutation in type I : BIANCO I, GRAZIANI B, LERONE M, PONZINI D, ALIQUO' 410 M C, and FOGLIETTA E Updated results of correspondence the thalassaemia prevention programme BROUWER 0 F see ZWETSLOOT C P et al carried out in Latium: short report 667 BROWN L A see YOUNG I D et al BISHOP C E see AFFARA N A et al BROWN S see PATrON M A and BROWN S BISSENDEN J G see CLARKE M J et al BRUETON L A, BARBER J C K, HUSON S M, and WINTER BITTLES A H see SHAMI S A et al R M Partial monosomy 3q in a boy with short stature, developmental delay, and mild BLAKEMORE A, ENGEL P C, and CURTIS D RFLP analysis of dysmorphic features: case report 729 the Acyl-CoA dehydrogenase medium chain (ACADM) region 600 abst BRYANT J see TAYLOR R et al et al BLANK C E see CURTIS D et al BUETOW K H see THEILMANN KUMAR D et al BUNDEY S, ALAM H, KAUR A, MIR S, and LANCASHIRE R J BLOCH M see FAHY M et al The Birmingham births study: ethnic group, BLOUIN J L see HURET J L et al consanguinity, and perinatal mortality 207 BLOXHAM R A see ROMAIN D R et al abst BLUNCK W see MEINECKE P and BLUNCK W and BOUGHTON E Are abortions more or less frequent once available? 794 BOBROW M see CROLLA J A et al prenatal diagnosis is HARRIS A and BOBROW M THAKE A, and TODD J The recurrence risks for mild HODGSON S et al idiopathic mental retardation 260 LLERENA J et al BUNTINX I and BARAITSER M A single maxillary incisor as a ROBERTS R G et al manifestation of an ectodermal dysplasia: SHERIDAN R et al case report 648 BODURTHA J N see HAMILTON J and BODURTHA J N BURLEY M W see SAMPSON J R et al BOILEAU C and JUNIEN C Misdiagnosed normal fetus owing BURN J, CHURCH W, CHAPMAN P D, GUNN A, DELHANTY J, to undetected germinal mosaicism for DMD and ROBERTS D F A regional register for deletion: short report 790 familial adenomatous polyposis: congenital BOLLMANN R see SPEER A et al hypertrophy of the retinal pigment epithe- Author index 803

lium as a means of carrier detection 207 CHRISTODOULOU J, McDOUGALL P N, and SHEFFIELD L J abst Choanal atresia as a feature of ectrodactyly- see also PAPIHA S S et al ectodermal dysplasia-clefting (EEC) syn- BURVILL-HOLMES L, STONE C, Fox R J, and HOWELL R T drome: case report 586 Mild clinical effects in unbalanced carriers of CHRISTOPHER K J see STEYN K et al a familial translocation 282 abst CHRZANOWSKA K see FRYNS J P et al BUTLER L see PEMBREY M et al CHURCH W see BURN J et al BYERS P H see KNISELY A S et al CLARK C, KELLY K F, HAITES N E, DEAN J, and JOHNSTON A W DNA probing in dystrophia myotonica in Scottish families 213 abst CAIRNEY H see ROMAIN D R et al see also FAIRWEATHER N et al CAINE A, KNAPTON D M, MUELLER R F, CONGDON P J, and CLARK P see HUSON S M et al HAIGH D Duplication of distal 17q from a CLARK R P see MACDERMOT K et al maternal translocation: an additional case CLARKE A see PAPIHA S S et al with some unique features: case report 577 CLARKE C see PEMBREY M et al CAIULO A see RIVERA H et al CLARKE M see KUMAR D et al CALVERT M see TEMPLE K et al CLARKE M J, THOMSON D A G, GRIFFITHS M J, BISSENDEN CAO A see FIGUS A et al J G, AUKEIr A, and WATT J L An unusual PIRASTU M et al case of mosaic Down's syndrome involving CARACHI R see YATES J R W et al two different Robertsonian translocations: CAREY B see FAGAN K et al case report 198 CARLES D see SERVILLE F et al CLAYTON-SMITH J and DONNAI D A new recessive syn- CARRITr B see WATERS J J et al drome of unusual facies, digital abnormali- CARSON D see NELSON J and CARSON D ties, and ichthyosis: case report 339 CARTER N see HODGSON S et al CLINICAL GENETICS SOCIETY, meeting, University of Aber- CARTER N P, FERGUSON-SMITH M E, and FERGUSON-SMITH deen, 22 and 23 September 1988, M A A study of X chromosome abnormality abstracts 207 in XX males using dual laser, bivariate flow and the CLINICAL MOLECULAR GENETICS SOCIETY Meeting karyotype analysis and flow sorted dot held on 30 and 31 March 1989, South- blots 596 abst ampton, abstracts 592 CAVALCANTI D P Unknown syndrome: abnormal facies, COAKLEY J see NORMAN A et al hypothyroidism, postaxial polydactyly, and COCKBURN F see GLASS I A et al severe retardation: a third patient: dysmor- COHEN R D see HITMAN G A et al phology report 785 COKER T P see AL-GAZALI L I et al CAWOOD A see SHERIDAN R et al COLE C G see ROBERTS R G et al CAZZOLA G see MARASCHIO P et al COLEMAN D V see PRATSIS L et al CHALLENER J see WINTER R M et al REBELLO M T et al CHAMBERLAIN S see SHAW J et al ROONEY D E et al CHAMBERS D see AFFARA N A et al COLGAN J see TOLMIE J et al CHANDLEY A C Asymmetry in chromosome pairing: a TOLMIE J L et al major factor in de novo mutation and the COLLIER S, SINNorr P J, DYER P A, HARRIS R, and production of genetic disease in man 546 STRACHAN T Long range mapping: a power- and MITCHELL A R Hypervariable minisatellite regions ful method for analysing gene organisation at are hotspots for recombination at meiosis in the duplicated 21-hydroxylase and comple- man 282 abst ment C4 loci 209 abst and RUMPLER Y European Society for Human Genetics. COLLINS C see THEILMANN J et al Satellite meeting on meiotic microspreading: COLUMBANO-GREEN L M see ROMAIN D R et al conference report 141 COMPSTON D A S see HUSON S M et al GOSDEN J R, HARGREAVE T B, SPOWART G, SPEED R M, LUNT P W et al and MCBEATH S Deleted Yq in the sterile son CONGDON P J see CAINE A et al of a man with a satellited Y chromosome CONNER A N see FINDLAY A et al (Yqs) 145 CONNOR J M see AITKEN D A et al CHAPMAN C J see ROMAIN D R et al COOKE A et al CHAPMAN P D see BURN J et al CROSSLEY J A et al CHEMKE J see GOODMAN R M et al FINDLAY A et al CHEN K, McKEEvER P A, and YOUNG I D Short rib GLASS I A et al syndrome without polydactyly: corres- LOUGHLIN S A R et al pondence 346 MORRISON N et al CHIARELLA F, BRICARELLI F D, LUPI G, BELLo-rI P, SAMPSON J R et al DOMENICUCCI S, and VECCHIO C Familial TOLMIE D A et al supravalvular aortic stenosis: a genetic COOKE A, LANYON W G, GILLARD E F, DORNAN E S, study 86 WILCOX D E, MCWHINNIE A, MORRIS A, 804 Author index

FERGUSON-SMITH M A, and CONNOR J M case complicated by iatragenic recombina- Analysis of Scottish Duchenne and Becker tion within the D4S10 locus 214 abst muscular dystrophy families with cDNA CURTIS A see also MCINTOSH I et al probes 601 abst MILLAN F A et al see CROSSLEY J A et al STRAIN L et al TOLMIE J et al CURTIS D, BLANK C E, and HUGHES H N Carrier detection TOLMIE J L et al and prenatal diagnosis in Norrie's CoPP A J and BROOK F A Does lumbrosacral spina bifida disease 600 abst arise by failure of neural folding or by see also BLAKEMORE A et al defective canalisation? 160 QUICK J R et al CORDA R see FIGUS A et al CURTIS M A, SMITH R A, SIBERT J, and HUGHES H E CORRIAS A see FIGus A et al Interstitial deletion, del(4)(q33q35.1), in a COUTELLE C see SPEER A et al mother and two children: case report 652 COUZIN D, RANKIN R, and WATr J Familial Wolf- CZEIZEL A Teratogenicity of ergotamine: corres- Hirschhorn syndrome resulting from recip- pondence 69 rocal translocation 215 abst and HAMULA J A Hungarian study on Werdnig- COWELL C see LIPSON A H et al Hoffmann disease 761 CRAEN M see SPELEMAN F et al CZEPULKOWSKI B see FENNELL S J et al CRAGGS M A HALL- see HALL-CRAGGS M A CRAUFORD D, KERZIN-STORRAR L, DODGE A, and HARRIS R Clinical application of predictive testing for DAINOTrI E see MARASCHIO P et Huntington's chorea using linked DNA al markers 592 abst DAISH P, HARDMAN M J, and LAMONT M A Hydrocepha- see also HARRIS R et al lus, tall stature, joint laxity, and kyphos- coliosis: a new inherited disorder of connec- CRAWFORD J W see MILLAN F A et al tive tissue?: case report 51 CRAWFURD M D'A see BARBER J C K et al DALLAY D see SERVILLE F et al CREASEY M, GOULD C, and HULTEN M An unusual case of DALY H see HUGHES H N et al chromosome instability 286 abst DALY M C see WATERS J J et al see also FIFER A M et al DANDO B R see STEYN K et al CROLLA J A, LLERENA J, SMITH M, and BOBROW M DAOUD W see HITMAN G A et al Resolution of 45,X/46,r(?) and 46,X,+mar DAVEY A see RAINE J et al karyotypes using X and Y specific probes DAVIDSON H R Patent ductus arteriosus with characteristic and non-isotopic in situ hybridisation 283 facies: an autosomal dominant syndrome abst 597 abst SMITH M, and DOCHERTY Z Identification and character- DAVIES K E see SPEER A et al isation of a small marker chromosome using DAVIS G S, GRIFFITHS M J, MILLER P R, THOMSON D A G, non-isotopic in situ hybridisation with X and and WATT J L Terminal deletions of the long Y specific probes: case report 192 arm of chromosome 1: a presentation of two CROSBIE A see CURTIS A et al cases 284 abst CROSSLEY J A, AITKEN D A, and CONNOR J M Maternal DAVISON E V see ENGLISH C J et al serum chorionic gonadotrophin levels in DAWSON A see Ross K et al Down's syndrome pregnancies 596 abst D'CROZ E see WARD J et al ZEITUNE M, AITKEN D A, YATES J R W, COOKE A, DE FRANCE H F see OORTHUYS J W E et al FERGUSON-SMITH M A, and CONNOR J M DE JONG G, RossoUw R A, and RETIEF A E Ring Predictive value of low maternal serum chromosome 15 in a patient with features of alphafetoprotein values in screening for Fryns' syndrome: dysmorphology report pregnancies with chromosomal aneu- 469 ploidies 284 abst DE PAEPE A Dominantly inherited cleft lip and palate: see also Aitken D A et al correspondence 797 CRUZ C see FIGUEIREDO J et al see also NARCISI P et al CUMMING W J K see SIDDIQUE T et al DE PATER J M see OORTHUYS J W E et al CURFS L M G, SCHREPPERS-TIJDINK G, WIEGERS A, DE VIRGILIS S see FIGUS A et al BORGHRAEF M, AND FRYNS J P Intelligence DEAN J see CLARK C et al and cognitive profile in the fra(X) syndrome: SIMPSON S et al a longitudinal study in 18 fra(X) boys 443 DEAN J C S, GRAY E S, HAITES N E, LLOYD D J, Ross K, CURTIS A, KESTON M, HOLLOWAY S, and BROCK D J H The and WEIR J Ivemark's syndrome and Mulle- use of haplotype analysis in Scottish cystic rian duct anomaly in monozygotic twins fibrosis families 594 abst 597 abst MILLAN F, HOLLOWAY S, MENNIE M, CROSBIE A, HAITES N, BEST P V, and JOHNSTON A W Ocular RAEBURN J A, and BROCK D J H Presymp- myopathy with muscular dystrophy: an auto- tomatic testing for Huntington's disease: a somal recessive kinship 208 abst Author index 805

POPE F M, PHILLIPS R, HAiTES N, and JOHNSTON A W ELLES R G, HODGKINSON K, READ A P, WATTERS A, and A family with Ehler,-Danlos syndrome type HARRIS R Recombination or heterogeneity? IV: recessive or dominant? 210 abst Observations in some Manchester APKD DEBENHAM P see SHERIDAN R et al families 595 abst DECOCK P see FRYNS J P et al see also IVINSON A J et al DELABAR J M see HURET J L et al ELONSALO U see ELIMA K et al DELHANTY J see BURN J et al EMERY A E H Emery-Dreifuss syndrome: syndrome of the DEN BERGHE H VAN see VAN DEN BERGHE H month 637 DEN BERGHE J VAN see VAN DEN BERGHE J Joseph Adams (1756-1818): portraits in medical DEN DUNNEN J T see BAKKER E et al genetics 116 DENNiS N R see LAMONT M A et al ENGEL P C see BLAKEMORE A et al DEPLANO A see FIGUS A et al ENGLISH C J, DAVISON E V, BHATE M S, and BARRETr L DEUSCHL G see WOLFF G et al Chromosome studies of males in an institu- DEVOTO M see FIGUS A et al tion for the mentally handicapped 379 DILLY S A see EDWARDS B D et al DJURI1 M see GU ('-EKIH M et al DOCHERTY Z see CROLLA J A et al FAED M J W see MILLAN F A et al DODGE A and READ A P Definition of a chromosomal FAGAN K and GILL A A new interstitial deletion of 4q breakpoint near to the Huntington's disease (q21-1::q22-1): case report 644 locus 214 abst HENRY R, WILKINSON I, and CAREY B A summary of see also CRAUFURD D et al 7q interstitial deletions and exclusion map- HARRIS R et al ping of the gene for beta-glucuronidase 619 DOMENICUCCI S see CHIARELLA F et al FAGAN K A and MORRIS R B Del(4)(q33--qter): another DONLON T A see SPAK D K et al case report of a child with mild dysmorph- DONNAi D The clinical significance of de novo structural ism: case report 776 rearrangements and markers detected pre- FAHY M, ROBBINS C, BLOCH M, TURNELL R W, and natally by amniocentesis: editorial 545 HAYDEN M R Different options for prenatal THOMPSON B, ALLANSON J, and BARAITSER M Severe testing for Huntington's disease using DNA Silver-Russell syndrome 447 probes 353 and WINTER R M Disorganisation: a model for 'early FAIRWEATHER N, KELLY K, HAITES N, SIMPSON S, amnion rupture'? 421 CLARK C, and JOHNSTON A Linkage study of see also CLAYTON-SMITH J and DONNAi D a Scottish family segregating for X linked WINTER R M and DONNAi D Charcot-Marie-Tooth disease (CMTX) DORMAN E S see COOKE A et al 215 abst DORNAN J C see NEVIN J et al FAKHR M see FARAG T I et al DOUGLAS J B see WATERS J J et al FARAG T I, AL-AWADI S A, YASSIN S, EL-KASSABY T A, DOWMAN C, LOCKWOOD D, and ALLANSON J Familial JAEFARY S, USHA R, UMA R, MADY S A, translocation t(9;16): case report 525 FAKHR M, MANNAE M, SENARTNE S, and DUBOWITZ V see HoDGSON S et al KHAN T S Anencephaly: a vanishing problem DUFFIE E see TOLMIE J et al in Bedouins: correspondence 538 DUNNEN J T DEN see DEN DUNNEN J T ISSA M A and MAHFOUZ E-S Discordant, non-syndromic, DUNNING A see HUMPHRIES S et al congenital diaphragmatic defects in sibs: case DYER P see HARRIS R et al report 781 DYER P A see COLLIER S et al report 67 SINNOTT P J et al FARDEAU M see LuCOTrE G et al FARNDON P see HARDY C and FARNDON P FARRALL M see GOATE A M et al EASTWOOD J B see EDWARDS B D et al SHAW J et al EDWARDS B D, PATTON M A, DILLY S A, and EASTWOOD FARRIER A see LYTLE C et al J B A new syndrome of autosomal recessive FAY A C see MCMILLAN S A et al nephropathy, deafness, and hyperpara- FELDMANN M, GILGENKRANTZ S, PARISOT S, ZARINi G, and thyroidism 289 MARCHAL C 3M : a study of two EIGEL A see KALAYDJIEVA L et al further sibs: case report 583 EL-KASSABY T A see FARAG T I et al FENNELL S J, BENSON J W T, KINDLEY A D, SCHWARTZ ELIAS S see SHULMAN L P et al M J, and CZEPULKOWSKi B Partial deletion ELIMA K, KAITILA I, MIKONOJA L, ELONSALO U, PELTONEN 8q without Langer-Giedion syndrome: a L, and VUORlo E Exclusion of the COL2A1 recognisable syndrome 167 gene as the mutation site in diastrophic see also PEMBREY M et al dysplasia 314 FERGUSON-SMITH M A see AFFARA N A et al ELLES R see HARRIS R et al CARTER N P et al HODGKINSON K A et al COOKE A et al IVINSON A J et al CROSSLEY J A et al 806 Author index

FERGUSON-SMITH M E et al KLECZNOWSKA A, DECOCK P, and VAN DEN BERGHE H HABEEBU S S M et al Angelman's syndrome and 15qll-13 dele- MAHER E R et al tions: corresponden.ce 538 NEWMAN R S et al see also CURFS L M G et al FERGUSON-SMITH M E, HABEEBU S S M, SPATHOS D, and LEGiUS E et al FERGUSON-SMITH M A Application of in situ FUJITA H see SATO H et al hybridisation to diagnostic cytogenetics 215 FURGA A SUPERTI- see SUPERTI-FURGA A abst FURNESS M E, WECKERT R C, PARKER S A, and KNOWLES S see also CARTER N P et al Ultrasound in the perinatal necropsy 368 HODGSON S et al FIELD B see KERR C and FIELD B FIELDING D W see SHEPPARD S et al GARDE L see HITMAN G A et al FIFER A M, MERCER A, CREASY M, GRIFFITHS M J, GARDNER-MEDWIN D see PAPIHA S S et al THOMSON D A G, YOUNG P R, MILLER P R, GAZALi L AL- see AL-GAZALI L and SZOLLAR J A Translocation involving the GAZALi L I AL- see AL-GAZALI L I short arm of an acrocentric chromosome: GERSSEN-SCHOORL K B J see OORTHUYS J W E et al problems in diagnosis 282 abst GIANNELLi F see GREEN P M et al FIGUEIREDO J, REIs A, VAZ R, LEAO M, and CRUZ C PATTON M A et al Porencephalic cyst in pycnodysostosis: case GIBBS J see AL-GAZALI L I et al report 782 GIBSON J see HABEEBU S S M et al FIGUS A, LAMPiS R, DEVOTO M, RiSTALDI M S, IDEO A, DE GIERTLER U see SPEER A et al VIRGILIS S, NURCHi A M, CORRIAS A, CORDA GILGENKRANTZ S see FELDMANN M et al R, LAI M E, Tocco A, DEPLANO A, SOLINAS GILL A see FAGAN K et al A, ZANCAN L, LEE W-H, CAO A, PIRASTU M, FAGAN K and GILL A and BALESTRIERI A Carrier detection and GILLARD E see NEWMAN R S et al early diagnosis of Wilson's disease by restric- GILLARD E F see COOKE A et al tion fragment length polymorphism GLASS I A, FIRRIT L A, COCKBURN F, and CONNOR J M analysis 78 Linkage analysis in a large family with FINDLAY A, CONNER A N, and CONNOR J M Dominant non-specific X linked mental retardation of 211 abst inheritance Scheuermann's juvenile kyph- SCHNUR R E, NUSSBAUM R L, and CONNOR J M osis: case report 400 Linkage analysis in fragile X syndrome using FINEGAN J K, QUARRINGTON B J, HUGHES H E, HOOD J E, DXS98 210 abst MERVYN J M, ZACHER J E, and BOYDEN M SWINDLEHURST C A, AITKEN D A, MCCREA W, and Child outcome after midtrimester amniocen- BOYD E Interstitial deletion of the long arm tesis: development and physical status at four of chromosome 2 with normal levels of years of age 211 abst isocitrate dehydrogenase: case report 127 FINN J P see HARBORD M G et al GLOVER T W see GORSKI J L et al FIRMAN D see BELL J A et al GOATE A M, HAYNES A, OWEN M J, JAMES L, FARRALL M, FiSCHER P see SHERRINGTON P et al MULLAN M J, ROQUES P, RoSSOR M N, FITCHETr M see LAMONT M A et al WILLIAMSON R, and HARDY J A Alzheimer's PEMBREY M et al disease locus maps close to the centromere SAVAGE R K and FITCHETT M on the long arm of chromosome 21 595 abst FLEURY P see SAMPSON J R et al GODDARD J see MORRISON N et al FLOHRSCHUTZ F see LYTLE C et al GOFF M R see MACDERMOT K et al FLOYD J L see NORMAN A M et al GOLDBLATT J see BALLO R et al FOGLIETTA E see BIANCO I et al GOLDMAN B see GOODMAN R M et al FORREST S see SPEER A et al GOODFELLOW P J see BEVERSTOCK G C et al Fox R J see BURVILL-HOLMES L et al GOODMAN R M, BONNE-TAMIR B, ADAM A, Voss R, BACH FRANCE H P DE see DE FRANCE H F G, SHILOH Y, KATZNELSON M B-M, BARKAI FRANCIS A J see PATrON M A et al G, GOLDMAN B, PADEH B, CHEMKE J, and FRASER I S see SMITH A et al LEGUM C in Israel: medical FRYER A see UPADHYAYA M et al genetics around the world 179 FRYER A E see SAMPSON J R et al GORDON A see THOMPSON E M et al FRYNS J-P Fountain's syndrome: mental retardation, sen- GORLIN R J see LiPSON A H et al sorineural deafness, skeletal abnormalities, GORSKI J L, KIYNE M, UHLMANN W, LOEFFLER K, and and coarse face with full lips: syndrome of GLOVER T W Interstitial deletion of the month 722 2(q33q36) in a child with congenital abnor- CHRZANOWSKA K, and VAN DEN BERGHE H Hypohidrotic malities: short report 204 ectodermal dysplasia, primary hypothyroid- GOSDEN J R see CHANDLEY A C et al ism, and agenesis of the corpus callosum: GOUDIE D see PORTEOUS M E et al case report 520 GOUDIE D R see SHEPHERD R C et al Author index 807

GOULD C see CREASY M et al HAMULA J see CZEIZEL A and HAMULA J GRADE K see SPEER A et al HAN K E see OLD J M et al GRAHAM A see KALSHEKER N et al HANKE R see SPEER A et al GRAHAM C A see HILL A J M et al HARBORD M G, BARAITSER M, and WILSON J Microcephaly, KELLY E D et al mental retardation, cataracts, and hypogo- MCMILLAN S A et al nadism in sibs: Martsolf's syndrome: case GRAY E S see DEAN J C S et al report 397 GRAZIANI B see BIANCO I et al FINN J P, HALL-CRAGGS M A, BRETr E M, and GREEN L M COLUMBANO- see COLUMBANO-GREEN L M BARAITSER M Moebius' syndrome with uni- GREEN P M, BENTLEY D R, MIBASHAN R S, NILSSON I M, lateral cerebellar hypoplasia: case report and GIANNELLI F Carrier and prenatal di- 579 agnosis by direct identification in haemophi- see also REARDON W et al lia B 595 abst HARDING A E see HOLT I J et al GREIG C see TOLMIE J L et al MALCOLM S et al GRIFFITHS M see PEMBREY M et al HARDING B see PATTON M A et al GRIFFITHS M J see CLARKE M J et al HARDING B N see WINTER R M et al DAVIS G S et al HARDMAN M J see DAISH P et al FIFER A M et al HARDY C and FARNDON P A study of West Midlands cystic GRIMM T see WOLFF G et al fibrosis families with five linked DNA GROOTSCHOLTEN P M see BAKKER E et al probes 213 abst GU,t-kEKI( M, PILIt-RADIVOJEVit G, MRDJENOVI( G, and HARDY J A see GOATE A M et al DJURIH M Interstitial deletion of llq: short HARGREAVE T B see CHANDLEY A C et al report 205 HARPER P see NORMAN A et al GUDNASON V see TAYLOR R et al NORMAN A and HARPER P GUIBAUD S see SERVILLE F et al HARPER P S Molecular genetics as a diagnostic service: GUNN A see BURN J et al editorial 217 GURUPRASAD G see KULKARNI M L et al see also BAMFORTH J S et al HUSON S M et al LUNT P W et al HAAN E A see SUTHERS G K et al LUNT P W and HARPER P S HABEEBU S S M, GIBSON J, AFFARA N A, and FERGUSON- MEREDITH L et al SMITH M A Localisation of three zinc finger NORMAN A M et al genes using Southern analysis of somatic cell ROBERTS S H et al hybrid DNA and non-radioactive in situ SNELL R G et al hybridisation 599 abst TYFIELD L A et al see also AFFARA N A et al UPADHYAYA M et al FERGUSON-SMITH M E et al HARRIS A and BOBROW M Cystic fibrosis: after the gene: HABEL A see ROONEY D E et al editorial 737 HABIBULLAH C M see JAYANTHI M et al HARRIS R, DYER P, MARTIN S, JOHNSON B, and MALLIK N HAERINGEN A VAN see VAN HAERINGEN A Matching HLA antigens significantly in- HAIGH D see CAINE A et al creases transplant survival: 20 years and 1001 HAITES N see DEAN J C S et al kidneys in a search for genetic FAIRWEATHER N et al perfection 207 abst Ross K et al ELLES R, CRAUFURD D, DODGE A, IVINSON A, HODG- SIMPSON S et al KINSON K, MOUNTFORD R, SCHWARTZ M, HAITES N E see CLARK C et al STRACHAN T, and READ A. Molecular gene- DEAN J C S et al tics in the National Health Service in HALL B D Iris coloboma, ptosis, , and Britain 219: correspondence 794 mental retardation: correspondence 69 see also COLLIER S et al HALL C M see TEMPLE I K et al CRAUFURD D et al HALL W and MACPHEE D Reproductive behaviour and ELLES R G et al consistent patterns of abnormality in HODGKINSON K A et al offspring of Vietnam veterans: corres- IVINSON A J et al pondence 603 LUNT P W et al HALL-CRAGGS M A see HARBORD M G et al MAHER E R et al REARDON W et al SHEPPARD S et al HAMILTON J and BODURTHA J N Congenital central SINNOTT P J et al hypoventilation syndrome and Hirsch- HARRISON C Cytogenetics of non-Hodgkin's lymphomas sprung's disease in half sibs: case 285 abst report 272 HART K see HODGSON S et al HAMMER H M see AL-GAZALI L I et al HART K A see ROBERTS R G et al HAMMER J see WOLFF G et al HARVEY J see STARR J et al 808 Author index HASEGAWA T see TAKEDA K et al heteropiasmy in Leber's hereditary optic HASSOLD T see ROBINSON D et al neuropathy 739 HAUGE M see ANDERSEN P E and HAUGE M HOOD J E see FINEGAN J K et al HAWKINS J see HODGSON S et al HOOGWERF A M see WOLSTENHOLME J et al HAYDEN M R see FAHY M et al HOPKINSON D A see WHITEHOUSE D B et al THEILMANN J et al HORST J see KALAYDJIEVA L et al HAYHOE F G J see SHERRINGTON P et al HORSTHEMKE B see PASSARGE E and HORSTHEMKE B HAYNES A see GOATE A M et al HOWARD J see SHERRINGTON P et al HECHT B see LYTLE C et al HOWELL R T see BURVILL-HOLMES L et al HECKMATr J see HODGSON S et al HUGGINS M see THEILMANN K et al HEDRICK A see THEILMANN J et al HUGHES H E see CURTIS M A et al HENDERSON H E see KOTZE M J et al FINEGAN J K et al HENNEKAM R C M and VERMEULEN-MEINERS C Further QUARRELL 0 W J and HUGHES H E delineation of the Yunis-Varon syndrome: HUGHES H N, DALY H, and LEALMAN G T Parental origin case report 55 in partial monosomy 4p (Wolf-Hirschhorn HENRY R see FAGAN K et al syndrome) using cytogenetics and DNA HERSH J H Toluene embryopathy: two new cases: case probes 597 abst report 333 see also CURTIS D et al HILL A J M, GRAHAM C A, MCLAVERTY D, and NEVIN N C HUGHES I A see BAMFORTH J S et al Linkage disequilibrium between probes HULTtN M see CREASY M et al XV2c/KM19 and cystic fibrosis in Northern HUMMEL K see WOLFF G et al Ireland 213 abst HUMPHRIES S, TAYLOR R, DUNNING A, and SEED M Gene see also MCMILLAN S A et al probes in the diagnosis of familial HIRSCHMANN P N see AL-GAZALI L I et al hypercholesterolaemia 594 abst HITMAN G A, GARDE L, DAOUD W, SNODGRASS G J A I, see also TAYLOR R et al and COHEN R D The calcitonin-CGRP gene HUNG W-Y see SIDDIQUE T et al in the infantile hypercalcaemia/Williams- HURET J L, RHAHMANY Z, BLOUIN J L, TANZER J, SINET Beuren syndrome 609 P M, and DELABAR J M Down's syndrome HJELM M see LOLIN Y et al without detectable karyotypic anomaly but Ho N K see TAN K C and Ho N K with a microduplication within chromosome HOCKEY K A, MULCAHY M T, MONTGOMERY P, and LEVITT 21 282 abst S Deletion of chromosome 5q and familial HURST J see REARDON W et al adenomatous polyposis: short report 61 HURST J A and BARAITSER M Johanson-Blizzard syn- HODGKINSON K see ELLES R G et al drome: syndrome of the month 45 HARRIS R et al BERRY A C, and TETrENBORN M A Unknown syndrome: HODGKINSON K A, WATTERS E A, ELLES R, KERZIN- congenital heart disease, choanal stenosis, STORRAR L, and HARRIS R Adult polycystic short stature, developmental delay, and dys- kidney disease (APKD) in the north west: morphic facial features in a brother and knowledge, experience, and attitudes to sister: dysmorphology report 407 prenatal diagnosis in 100 kindreds 592 abst VAN HAERINGEN A, and BARAITSER M A dominantly HODGSON S, HART K, ABBS S, HECKMATT J, RODILLO E, inherited syndrome of microcephaly, sparse BOBROW M, and DUBOWITZ V Correlation of hair, mental retardation, and seizures 597 clinical and deletion data in Duchenne and abst Becker muscular dystrophy 682 HUSON S M, COMPSTON D A S, CLARK P, and HARPER P S A WATERS J J, FERGUSON-SMITH M E, CARTER N, ALEXAN- genetic study of von Recklinghausen neuro- DER J, NASH R, and HAWKINS J Prenatal fibromatosis in south east Wales. I Preva- diagnosis of a double bisatellited marker: lence, fitness, mutation rate, and effect of confirmation of diagnosis by flow sorting parental transmission on severity 704 598 abst and HARPER P S A genetic study of von Reckling- see also TEMPLE I K et al hausen neurofibromatosis in south east HOEKMAN H see BEVERSTOCK G C et al Wales. II Guidelines for genetic counselling HOF E see BOLTSHAUSER E et al 712 HOLLOWAY S see CURTIS A et al see BRUETON L A et al MILLAN F A et al UPADHYAYA M et al STRAIN L et al HYDE J see WINTER R M et al HOLMES G E and SCHIMKE R N Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnor- IDEO A see FIGUS A et al malities: dysmorphology report 665 IMRIE S see MACGREGOR D J et al HOLMES L BURVILL- see BURVILL-HOLMES L ISHAQ M see JAYANTHI M et al HOLT I J, MILLER D H, and HARDING A E Genetic ISRAEL J see LESSICK M L et al heterogeneity and mitochondrial DNA ISSA M A see FARAG T I et al Author index 809

IVINSON A see HARRIS R et al KERZIN-STORRAR L see CRAUFURD D et al IVINSON A J, ELLES R G, READ A P, SCHWARTZ M, HODGKINSON K A et al WILLIAMS C, WILLIAMSON B, and HARRIS R KESTON M see CURTIS A et al Applications of the polymerase chain reac- KHAN T S see FARAG T I et al tion to cystic fibrosis 214 abst KIND P R N see WHITEHOUSE D B et al READ A P, HARRIS R, SUPER M, SCHWARZ M, KINDLEY A D see FENNELL S J et al SMITH J C, and ELLES R Testing for cystic KINGSTON H see LUNT P W et al fibrosis using allelic association 426 KISS P and OSZTOVICS M Association of 13q deletion and Hirschsprung's disease: correspondence 796 JACOBS P see ROBINSON D et al KIYNE M see GORSKI J L et al JADAYEL D, MATHEW C, and PONDER B A J Physical and KLECZKOWSKA A see FRYNS J P et al genetic studies of neurofibromatosis type 1 KNAPTFON D M see CAINE A et al (von Recklinghausen NF) 600 abst KNISELY A S Thanatophoric dysplasia in identical twins: JAEFARY S see FARAG T I et al correspondence 735 JALILI I K Cone-rod congenital amaurosis associated with ABUELO D, and BYERS P H Lethal osteogenesis imper- congenital hypertrichosis: an autosomal re- fecta: correspondence 410 cessive condition 504 KNOWLES S see FURNESS M E et al JAMES L see GOATE A M et al KOTZE M J, LANGENHOVEN E, RETIEF A E, SEFTEL H C, JAYANTHI M, HABIBULLAH C M, ISHAQ M, ALI H, BABU HENDERSON H E, and WEICH H F H Haplo- P S, and ALI M M Distribution of hapto- types identified by 10 DNA restriction frag- globin phenotypes in oesophageal and gastric ment length polymorphisms at the human cancer 172 low density lipoprotein receptor gene JOHNSON B see HARRIS R et al locus 255 JOHNSTON A see FAIRWEATHER N et al KRUSE K see MENGER H et al JOHNSTON A W see CLARK C et al KULKARNI M L, KURIAN M, GURUPRASAD G, and PANCHAK- DEAN J C S et al SHARIAH M S Genetic heterogeneity in Waar- SIMPSON S et al denburg's syndrome: correspondence 411 JOHNSTON K see SPAK D K et al KUMAR D, BLANK C E, and PONDER B A family with JONG G DE see DE JONG G Turcot syndrome suggesting autosomal JUNIEN C see BOILEAU C and JUNIEN C dominant inheritance 592 abst CLARKE M, and SALFIELD S A W A case of partial monosomy of short arm of chromosome 8 KAITILA I see ELIMA K et al with unbalanced rearrangement of an un- KALAITSIDAKI M see AFFARA N A et al known satellited material 598 abst KALAYDJIEVA L, EIGEL A, and HORST J The molecular basis KURIAN M see KULKARNI M L et al of beta thalassaemia in Bulgaria 614 KALSHEKER N, GRAHAM A, NEWTON C R, BAMFORTH F, POWELL S J, and MARKHAM A F The charac- LAI M E see FIGUS A et al terisation of three alphaI antitrypsin LAMB J T see AL-GAZALI L I et al deficient variants: Pi nullCardif-Asp25_6__1Val, LAMONT A C see YOUNG I D et al PiMmalton -Phe5 "/52- deletion, PiI-Arg39-__Cys YOUNG I D and LAMONT A C 596 abst LAMONT M and SALISBURY AJ Unilateral absence of the KANANI S see THEILMANN J et al hand in second cousins: case report 190 KARPAS A see SHERRINGTON P et al see also STARR J et al KASSABY T A EL- see EL-KASSABY T A LAMONT M A, FITCHETT M, and DENNIS N R Interstitial KATZNELSON M B-M see GOODMAN R M et al deletion of distal 13q associated with KAUR A see BUNDEY S et al Hirschsprung's disease 100 KAVANAGH F B see BEECH R et al see also DAISH P et al KEITH C G Absent or hypoplastic extraocular muscles?: LAMPIS R see FIGUS A et al correspondence reply 216 LANCASHIRE R J see BUNDEY S et al KELLY E D, GRAHAM C A, MORRISON P, and NEVIN N C LANG G D see YOUNG I D et al Carrier estimations and deletion mapping in LANG W see BOLTSHAUSER E et al DMD families in Northern Ireland 212 abst LANGENHOVEN E see KOTZE M J et al KELLY K see FAIRWEATHER N et al LANYON W G see COOKE A et al Ross K et al LAZAROU L P see SNELL R G et al KELLY K F see CLARK C et al LAZARUS J H see BAMFORTH J S et al KENDALL B see REARDON W et al LEALMAN G T see HUGHES H N et al KERR C and FIELD B Reproductive behaviour and consis- LEAO M see FIGUEIREDO J et al tent patterns of abnormality in offspring of LEE W-H see FIGUS A et al Vietnam veterans: correspondence reply LEGIUS E, FRYNS J P, and VAN DEN BERGHE H Auralcepha- 606 losyndactyly: a new syn- 810 Author index

drome or a variant of the Saethre-Chotzen A workshop on facioscapulohumeral (Landouzy- syndrome?: case report 522 Dejerine) disease, Manchester, 16 to 17 LEGUM C see GOODMAN R M et al November 1988: conference report 535 LEITE R P see PINTO M R et al COMPSTON D A S, and HARPER P S Estimation of age LEOFFLER K see GORSKI J L et al dependent penetrance in facioscapulohum- LERONE M see BIANCO I et al eral muscular dystrophy by minimising LEROY J see SPELEMAN F et al ascertainment bias 755 LESSICK M L, ISRAEL J, WONG P W K, and SZEGO K Partial and HARPER P S A genetic study of facioscapulohumeral trisomy 16q secondary to a maternal 9;16 muscular dystrophy 207 abst translocation: short report 63 KINGSTON H, READ A P, MOUNTFORD R C, and HARRIS R LEVERSHA M see VOULLAIRE L E et al Dystrophin gene deletions in males di- LEVIlT S see HOCKEY K A et al agnosed as spinal muscular atrophy 212 LEVY I, LEVY Y, MAMMON Z, NITZAN M, and STEINHERZ R abst Gastrointestinal abnormalities in the syn- see also UPADHYAYA M et al drome of mosaic trisomy 9: short report LUPI G see CHIARELLA F et al 280 LYTLE C, WADE J, FARRIER A, FLOHRSCHUTZ F, HECHT B, LEVY Y see LEVY I et al and ALLANSON J Duplication 6p and deletion LEWIS I see MEHTA L et al 9p: short report 64 LILFORD R J see PENMAN D G and LILFORD R J LiPSON A Van der Woude syndrome and limb defects: the chance of recurrence: correspondence 347 LiPSON A H, COWELL C, and GORLIN R J The SHORT MAASWINKEL-MOOY P D see ZWETSLOOT C P et al syndrome: further delineation and natural MCALLISTER-BARTON L see WATSON M S et al history: short report 473 MCBEATH S see CHANDLEY A C et al LISTON W A see MILLAN F A et al MCCREA W see GLASS I A et al LIITLE D A see WOLSTENHOLME J et al MACDERMOT K, CLARK R P, and GOFF M R Identification LiVESEY P see STONE C et al of functioning sweat pores and visualisation LLERENA J, MURER-ORLANDO M, MCGUIRE M, ZAHED L, of skin temperature patterns in females SHERIDAN R J, BERRY A C, and BOBROW M heterozygous for X linked hypohidrotic Spontaneous and induced chromosome ectodermal dysplasia and affected males by breakage in chorionic villus samples: a whole body thermography 592 abst cytogenetic approach to first trimester pre- MACDERMOT K D, PArrON M A, WILLIAMS M J H, and natal diagnosis of ataxia telangiectasia WINTER R M Hypertrichosis cubiti (hairy syndrome 174 elbows) and short stature: a recognisable see also CROLLA J A et al association 382 SHERIDAN R et al MCDOUGALL P N see CHRISTODOULOU J et al LLOYD D J see DEAN J C S et al MACFARLANE J D see BEVERSTOCK G C et al LOCKWOOD B see RICHTER S et al MACGREGOR D J, IMRIE S, and TOLMIE J L Outcome of de LOCKWOOD D see DOWMAN C et al novo balanced translocations ascertained RiCHTER S et al prenatally: short report 590 LOEFFLER F E see REBELLO M T et al MCGUIRE M see LLERENA J et al LOLIN Y, RAZIS P A, O'GORMAN P, HJELM M, and MCINTOSH I, CURTIS A, MILLAN F A, and BROCK D J H WIERZBICKi A S Transient nephrotic syn- Prenatal exclusion testing for Huntington's drome after anaesthesia resulting from a disease using the polymerase chain familial cryofibrinogen precipitating at reaction 214 abst 350C 631 see also WHITEHOUSE D B et al LONGSTAFF S see QUICK J R et al MCKEEVER P A see CHEN K et al LOUGHLIN S A R, REDHA A, PIRRIT L A, BOYD E, and YOUNG I D et al CONNOR J M Molecular analysis of the X MACLACHLAN N see REBELLO M T et al chromosome in Turner's syndrome 600 ROONEY D E et al abst MCLAVERTY D see HILL A J M et al LOVEGROVE J U see WHITEHOUSE D B et al MCMAHON C J see WHITEHOUSE D B et al LUCKING C H see WOLFF G et al MCMILLAN S A, HILL A J M, and GRAHAM C A T cell LUCOTrE G, BERRICHE S, and FARDEAU M Linkage analysis receptor beta chain polymorphism is associ- of French families with facioscapulohumeral ated with CF carriers 214 abst muscular dystrophy 485 NEVIN N C, and FAY A C T cell receptor beta chain see also SARFARAZI M et al polymorphisms are associated with cystic LUNT P see SARFARAZI M et al fibrosis 431 SIDDIQUE T et al MACPHEE D see HALL W and MACPHEE D LUNT P W The Association of Physicians of Great Britain MCWHINNIE A see COOKE A et al and Northern Ireland, Oxford, 14 to 15 April MADOKORO H see OHDO S et al 1989: conference report 733 MADY S A see FARAG T I et al Author index 811

MAHER E R, HARRIS R, YATES J R W, and FERGUSON- MICHEL D see PRATSIS L et al SMITH M A Clinical features and prognosis of MICHEL M see ROONEY D E et al von Hippel-Lindau disease 600 abst MIDDLETON-PRICE H see MALCOLM S et al MAHFOUZ E-S see FARAG T I et al MIELI-VERGANI G see WHITEHOUSE D B et al MAHL H see BARBER J C K et al MIKONOJA L see ELIMA K et al MAHONEY M J see WATSON M S et al MILLAN F see CURTIS A et al MALCOLM S, MIDDLETON-PRICE H, BERCIANO J, and HARD- MILLAN F A, CURTIS A, MENNIE M, HOLLOWAY S, BOXER ING A E Hereditary motor and sensory M, FAED M J W, CRAWFORD J W, LISTON neuropathy type I (Charcot-Marie-Tooth W A, and BROCK D J H Prenatal ex- disease type I) is not linked to a chromosome clusion testing for Huntington's disease: a 1 linkage group containing Duffy (FY), problem of too much information 83 amylase (AMY), tumour associated epithe- see also MCINTOSH I et al lial mucins (PUM), alpha-spectrin (SPTA), MILLER D H see HOLT I J et al and serum amyloid protein (APCS) 208 MILLER P R see DAVIS G S et al abst FIFER A M et al see also YATES J R W et al MIR S see BUNDEY S et al MALLIK N see HARRIS R et al MITCHELL A R see CHANDLEY A C and MITCHELL A R MAMMON Z see LEVY I et al MITCHELL M see NEWMAN R S et al MANN L see SAMPSON J R et al MITrWOCH U Murderous science and the abuse of genetics: MANNAE M see FARAG T I et al correspondence 476 MANSON J I see SUTHERS G K et al MOLE G see BEECH R et al MARASCHIO P, TUPLER R, DAINOTTI E, PIANTANIDA M, RONA R J et al CAZZOLA G, and TIEPOLO L Differential M0LLER H U see WARBURG M and M0LLER H U expression of the ICF (immunodeficiency, MONTGOMERY P see HOCKEY K A et al centromeric heterochromatin, facial anoma- MooY P D MAASWINKEL- see MAASWINKEL-MOOY P D lies) mutation in lymphocytes and MORRIS A see COOKE A et al fibroblasts 452 MoRIus R B see FAGAN K A and MORRIS R B MARASCHIO P see RIVERA H et al MORRISON N, GODDARD J, CONNOR J M, and BOYD E MARCHAL C see FELDMANN M et al Chromosomal assignment of a tRNA gene MARKHAM A P see KALSHEKER N et al cluster (tRNAIu, tRNAGIn, tRNALys) to MARTIN S see HARRIS R et al 17p12-pter 212 abst MATHEW C see JADAYEL D et al MORRISON P see KELLY E D et al MATKINS S see SHERIDAN R et al MOUNTFORD R see HARRIS R et al MAY A see SHICKLE D and MAY A READ A and MOUNTFORD R MEDWIN D GARDNER- see GARDNER-MEDWIN D MOWAT A P see WHITEHOUSE D B et al MEHTA L, LEWIS I, and PATrON M A Unknown syndrome: MRDJENOViH G see GU1t-kEKIt M et al congenital heart disease, ptosis, hypodon- MUELLER R F see AL-GAZALI L I et al tia and craniosynostosis: dysmorphology CAINE A et al report 664 SAMPSON J R et al MEINECKE P and BLUNCK W Frontonasal dysplasia, con- WINTER R M et al genital heart defect, and short stature: a MULCAHY M T see HOCKEY K A et al further observation: dysmorphology report MULLAN M J see GOATE A M et al 408 MULLER C R see WOLFF G et al POLKE A, and SCHMIEGELOW P Limb anomalies in MULLEY J C see SUTHERS G K et al the CHARGE association: dysmorphology MURER-ORLANDO M see LLERENA J et al report 202 MURRAY J C see THEILMANN J et al MEINERS C VERMEULEN- see VERMEULEN-MEINERS C MENGER H, KRUSE K, and SPRANGER J Spondylo- enchondrodysplasia 92 MENNIE M see CURTIS A et al NACHEVA E see SHERRINGTON P et al MILLAN F et al NARCISI P, NICHOLLS A C, DE PAEPE A, and POPE F M An STRAIN L et al alpha I (III) CBS mutation in Ehlers-Danlos MERCER A see FIFER A M et al syndrome type IV 211 abst MEREDITH A L see NORMAN A M et al NASH R see HODGSON S et al TYFIELD L A et al NELSON J and CARSON D Pituitary function studies in a case MEREDITH L, UPADHYAYA M, and HARPER P S The of mild Hunter's syndrome (MPS IIB): case evolution of a molecular genetic diagnostic report 731 service 209 abst NEUMANN R see SPEER A et al MERLOB P Triphalangeal thumb: correspondence 477 NEVIN J, NEVIN N C, DORNAN J C, SIM D, and ARMSTRONG MERVYN J M see FINEGAN J K et al M J Early amniocentesis: experience of MEYERS C M see SHULMAN L P et al 222 cases 596 abst MIBASHAN R S see GREEN P M et al NEVIN N C see HILL A J M et al 812 Author index

see KELLY E D et al PAPIHA S S, ROBERTS D F, CLARKE A, BURN J, GARDNER- MCMILLAN S A et al MEDWIN D, and BHATTACHARYA S S Popula- NEVIN J et al tion frequencies of three DNA alleles linked SHEPPARD S et al to the Duchenne muscular dystrophy gene: NEWMAN R S, AFFARA N A, GILLARD E, MITCHELL M, short communication 390 YATES J R W, BALLABIO A, and FERGUSON- PARFITT R G see ROMAIN D R et al SMITH M A Physical mapping around the PARISOT S see FELDMANN M et al steroid sulphatase locus 599 abst PARKER S A see FURNESS M E et al NEWTON C R see KALSHEKER N et al PASSARGE E and HORSTHEMKE B The use of molecular NICHOLLS A C see NARCISI P et al information at the retinoblastoma locus for NIHIRA S see SATO H et al genetic counselling and early diagnosis 209 NILSSON I M see GREEN P M et al abst NITZAN M see LEVY I et al PATEL I see YOUNG I D et al NORMAN A and HARPER P A survey of manifesting carriers PATER J M DE see DE PATER J M of Duchenne and Becker muscular dystrophy PATTON M A and BROWN S Noonan's syndrome: results of in Wales 212 abst patient questionnaire 597 abst THOMAS N, COAKLEY J, and HARPER P Use of dystrophin GIANNELLI F, FRANCIS A J, BARAITSER M, HARDING B, cDNA probes for differential diagnosis be- and WILLIAMS A J Early onset Cockayne's tween Becker muscular dystrophy and limb- syndrome: case reports with neuropatholo- girdle muscular dystrophy 593 abst gical and fibroblast studies 154 NORMAN A M, FLOYD J L, MEREDITH A L, and HARPER P S see also EDWARDS B D et al Presymptomatic detection and prenatal di- MACDERMOT K D et al agnosis for myotonic dystrophy by means of MEHTA L et al linked DNA markers 750 WINTER R M et al ROGERS C, SIBERT J R, and HARPER P S Duchenne PEARN J H see BELL J A et al muscular dystrophy in Wales: a 15 year PEARSON M, RISKE C, and ALLANSON J E Maternal study, 1971 to 1986 560 translocation (9;18) with two abnormal UPADHYAYA M, THOMAS N S T, ROBERTS K, and HARPER offspring each with different chromosome P S Duchenne muscular dystrophy in Wales: derivatives: case report 655 impact of DNA linkage analysis and cDNA PEARSON P L see BAKKER E et al deletion screening 565 PELTONEN L see ELIMA K et al NUBANI N see ZLOTOGORA J and NUBANI N PEMBREY M, FENNELL S J, VAN DEN BERGHE J, FITCHETT NURCHI A M see FIGUS A et al M, SUMMERS D, BUTLER L, CLARKE C, NUSSBAUM R L see GLASS I A et al GRIFFITHS M, THOMPSON E, SUPER M, and BARAITSER M The association of Angelman's syndrome with deletions within 15qll- 13 73 O'BRIEN J see AFFARA N A et al see also TEMPLE K et al OEPEN G see WOLFF G et al PEMBREY M E see TEMPLE I K et al O'GORMAN P see LOLIN Y et al PENMAN D G and LILFORD R J The megacystis-microcolon- OHBA K-I see OHDO S et al OHDO K-I intestinal hypoperistalsis syndrome: a fatal S, MADOKORO H, SONODA T, and OHBA Sibs autosomal recessive condition: short lacking characteristic features of duplication report 66 of distal 17q: case report 465 PERICAK-VANCE M see SARFARAZI M et al OKAMURA T see TAKEDA et K al SIDDIQUE T et al OLD J M, HAN K E, and WEATHERALL D J Maternal DNA PHILLIPS K L see SIDDIQUE T et al in chorionic villus samples 595 abst PHILLIPS R see DEAN J C S et al OMMEN G J B VAN see VAN OMMEN G J B PIANTANIDA M see MARASCHIO P et al OORTHUYS J W E, GERSSEN-SCHOORL K B J, DE PATER J M, PILIC-RADIVOJEVIC G see GU6-SCEKIt M et al and DE FRANCE H F A third case of de novo PINTO M R, LEITE R P, and AREIAS A Features of Turner's partial trisomy 4p: short reports 344 and DiGeorge's syndromes in a child with an ORLANDO M MURER- see MURER-ORLANDO M X;22 translocation: case report 778 OSBORN M J see TYFIELD L A et al PIRASTU M, RISTALDI M S, and CAO A Prenatal diagnosis of OSBORNE J see SAMPSON J R et al beta thalassaemia based on restriction en- OszTovIcs M see Kiss P and OszTovICs M donuclease analysis of amplified fetal OWEN M J see GOATE A M et al DNA 363 see also FIGUS A et al PIRRIT L A see GLASS I A et al PADBERG G see SARFARAZI M et al LOUGHLIN S A R et al PADEH B see GOODMAN R M et al SAMPSON J E et al PAEPE A DE see DE PAEPE A PISTONE P see SUPERTI-FURGA A et at PANCHAKSHARIAH M S see KULKARNI M L et al PLINT D see TEMPLE K et al Author index 813

PODRUCH P E see YEN F-S et al REBELLO M T, MACLACHLAN N, ROONEY D E, SMITH J, POLKE A see MEINECKE P et al LOEFFLER F E, BEARD R W, RODECK C, and PONDER B see KUMAR D et al COLEMAN D V Early amniocentesis: a PONDER B A J see JADAYEL D et al cytogenetic evaluation of 60 cases 596 abst PONZINI D see BIANCO I et al see also ROONEY D E et al POOLE C J M see WHITEHOUSE D B et al REBELLO R see PRATSIS L et al POPE F M see DEAN J C S et al REDDY K S see STONE C et al NARCISI P et al REDHA A see LOUGHLIN S A R et al PORTCH J see BARBER J C K et al REIS A see FIGUEIREDO J et al PORTEOUS M E, GOUDIE D, and TOLMIE J Clinical and RETIEF A E see DE JONG G et al genetic aspects of Aarskog's syndrome 210 KOTZE M J et al abst REYNOLDS A see RONA R J et al POVEY S see SAMPSON J R et al RICHTER S, LoCKWOOD B, LOCKWOOD D, and ALLANSON J POWELL S J see KALSHEKER N et al Abnormal chromosome complement result- PRATSIS L, REBELLO R, MICHEL D, ROONEY D E, and ing from a familial inversion of chromosome COLEMAN D V A semi-automatic slide 2: case report 725 spreading method for direct CVS RISKE C see PEARSON M et al preparations 283 abst RISTALDI M S see FIGUS A et al PRENTICE L see BEECH R et al PIRASTU M et al RONA R J et al RIVERA H, ZUFFARDI 0, MARASCHIO P, CAIULo A, ANICHI- PRICE D A see SINNOTT P J et al NI C, SCARINCI R, and VIVARELLI R Alternate PRICE H MIDDLETON- see MIDDLETON-PRICE H centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progres- sive neurological disorder 626 ROBBINS C see FAHY M et al QUARRELL 0 see THEILMANN J et al ROBBINS C see THEILMANN J et al QUARRELL 0 W J and HUGHES H E The dysequilibrium ROBERTS D F see BURN J et al syndrome 208 abst PAPIHA S S et al see also SNELL R G et al ROBERTS K see NORMAN A M et al QUARRINGTON B J see FINEGAN J K et al ROBERTS P, WILLIAMS J, and SILLS M A A case of two QUICK J R, LONGSTAFF S, and CURTIS D A study of seven inversion (10) recombinants in a family: case myotonic dystrophy families 600 abst report 461 ROBERTS R G, COLE C G, HART K A, BOBROW M, and BENTLEY D R Application of the polymerase RABBITrS P H see WATERS J J et al chain reaction to diagnosis of Duchenne and RADIVOJEVIH G PILI(- see PILI(-RADIVOJEV1C G Becker muscular dystrophy 593 abst RAEBURN J A see CURTIS A et al ROBERTS S H, UPADHYAYA M, SARFARAZI M. and HARPER RAHMANY Z see HURET J L et al P S Further evidence localising the gene for RAINE J, WINTER R M, DAVEY A, and TUCKER S M Hunter's syndrome to the distal region of the Unknown syndrome: microcephaly, hypo- X chromosome long arm 309 plastic nose, exophthalmos, gum hyperpla- ROBINSON D, JACOBS P, and HASSOLD T Turner's syndrome: sia, cleft palate, low set ears, and osteoscler- the use of DNA probes 594 abst osis: dysmorphology report 786 see also STARR J et al RANKIN R see COUZIN D et al RODECK C see REBELLO M T et al RAZIS P A see LOLIN Y et al ROONEY D E et al READ A and MOUNTFORD R DMD/BMD carrier detection RODILLO E see HODGSON S et al using a new RFLP 599 abst ROGERS C see NORMAN A M et al see also HARRIS R et al ROMAIN D R, BLOXHAM R A, COLUMBANO-GREEN L M, READ A P X linked or autosomal recessive? A new CHAPMAN C J. PARFITT R G, SMYTHE R H, approach to an old problem 305 and CAIRNEY H Familial distal trisomy see also DODGE A and READ A P 8(q24.13--qter): case report 133 ELLES R G et al ROMANO C see SUPERTI-FURGA A et al IVINSON A J et al ROMANO P E Absent or hypoplastic extraocular muscles?: LUNT P W et al correspondence 216 SHEPPARD S et al RONA R J, SWAN A V, BEECH R, PRENTICE L, REYNOLDS A, YATES J R W et al WILSON 0, MOLE G, and VADERA P Demand REARDON W, HARBORD M G, HALL-CRAGGS M A, KEN- for DNA probe testing in three genetic DALL B, BRETT E M, and BARAITSER M centres in Britain (August 1986 to July Central nervous system malformations in 1987) 226 Mohr's syndrome: case report 659 see also BEECH R et al TEMPLE I K, HURST J, and BARAITSER M Frontonasal ROONEY D E, MAcLACHLAN N, REBELLO M T, MICHEL. M, dysplasia and Poland's syndrome 598 abst SMITH J, BEARD R W, RODECK C, and 814 Author index

COLEMAN D V Preliminary evaluation of SCARINCI R see RIVERA H et al early amniocentesis for chromosome SCEKIC M Guc- see GUCS-EKIC M analysis 284 abst SCHIECK J see SPEER A et al WILLIAMS K, COLEMAN D V, and HABEL A A case of SCHIMKE R N see HOLMES G E and SCHIMKE R N interstitial deletion of 10q25.2--q26.1: case SCHMIEGELOW P see MEINECKE P et al report 58 SCHMirr L H see SHAMI S A et al see also PRATSIS L et al SCHNUR R E see GLASS I A et al REBELLO M T et al SCHOORL K B J GERSSEN- see GERSSEN-SCHOORL K B J ROPER H see SIDDIQUE T et al SCHORAH C J see SHEPPARD S et al ROQUES P see GOATE A M et al SCHREPPERS-TIJDINK G see CURFS L M G et al ROSEs A D see SIDDIQUE T et al SCHUMACHER M see WOLFF G et al Ross K, HAITES N, KELLY K, BENNET B, and DAWSON A SCHWARZ M The use of linkage disequilibrium in the The use of minisatellite probes to study genetics of cystic fibrosis (CF) 283 abst DNA damage in patients on chemo- see also IVINSON A J et al therapy 210 abst SCHWARZ M J see FENNELL S J et al DAWSON A, and BENNETT B DNA 'fingerprint' SCHWARTZ M see HARRIS R et al changes in patients on combination SEED M see HUMPHRIES S et al chemotherapy 599 abst SEFTEL H C see KOTZE M J et al see also DEAN J C S et al SELLER M J see SHEPPARD S et al RossOR M N see GOATE A M et al SENARTNE S see FARAG T I et al Rossouw J E see STEYN K et al SERVILLE F, CARLES D, GUIBAUD S, and DALLAY D Fetal Rossouw R A see DE JONG G et al valproate phenotype is recognisable by mid ROWLAND A see SHAW J et al pregnancy: correspondence 348 RUMPLER Y see CHANDLEY A C and RUMPLER Y SHAMI S A, SCHMiTT L H, and BiTTLEs A H Consanguinity RUSSELL P see SMITH A et al related prenatal and postnatal mortality of the populations of seven Pakistani Punjab cities 267 SAADI A A AL see AL SAADI A A SHAW D J see SNELL R G et al SALEH Q A AL- see AL-SALEH Q A SHAW J, CHAMBERLAIN S, ROWLAND A, WALLIS J, SOUTH S, SALFIELD S A W see KUMAR D et al FARRELL M, and WILLIAMSON B Linkage of SALISBURY A J see LAMONT M and SALISBURY A J Friedreich's ataxia to human chromosome SAMPSON J R, PIRRIT L A, FLEURY P, BEIGHTON P, YATES 9 209 abst J R W, and CONNOR J M Linkage analysis in see also SIDDIQUE T abst tuberous sclerosis with multiple markers SHEARMAN R P see SMITH A et al from chromosome 9 212 abst SHEFFIELD L J see CHRISTODOULOU J et al SCAHILL S J, STEPHENSON J B P, MANN L, and CONNOR SHEPHERD R C, GOUDIE D R, and TOLMIE J L Unknown J M Genetic aspects of tuberous sclerosis in syndrome: Noonan-like craniofacial fea- the west of Scotland 28 tures, digital anomalies, and premature YATES J R W, PIRRIT L A, FLEURY P, WINSHIP I, birth: dysmorphology report 470 BEIGHTON P, and CONNOR J M Evidence for SHEPPARD S, NEVIN N C, SELLER M J, WILD J, SMITHELLS genetic heterogeneity in tuberous sclerosis R W, READ A P, HARRIS R, FIELDING D W, 511 and SCHORAH C J Neural tube defect recur- POVEY S, BURLEY M W, FLEURY P, WINSHIP I, rence after 'partial' vitamin supplementation BEIGHTON P, FRYER A E, OSBORNE J, AL- 326 GAZALI L, MUELLER R F, and CONNOR J M SHERIDAN H see WOLSTENHOLME J et al Linkage analysis in tuberous sclerosis: evi- SHERIDAN R, LLERENA J, MATKINS S, DEBENHAM P, dence for genetic heterogeneity with one CAWOOD A, and BOBROW M Fertility disease locus at distal 9q 593 abst in a male with trisomy 21 294 SARFARAZI M, UPADHYAYA M, PADBERG G, PERICAK- SHERIDAN R J see LLERENA J et al VANCE M, SIDDIQUE T, LUCOTTE G, and SHERRINGTON P, FISCHER P, NACHEVA E, HOWARD J, LUNT P An exclusion map for facioscapulo- ALBERTSON D, KARPAS A, and HAYHOE F G J humeral (Landouzy-Dejerine) disease 481 Cytogenetics of B cell tumours 285 abst see also ROBERTS S H et al SHIANG R see THEILMANN et al UPADHYAYA M et al SHICKLE D and MAY A Knowledge and perceptions of SATO H, TAKAYA K, NIHIRA S, and FUJITA H Familial haemoglobinopathy carrier screening among mental retardation associated with balanced general practitioners in Cardiff 109 chromosome rearrangement rcp t(8;11) SHILOH Y see GOODMAN R M et al (q24-3;pl5-1): case report 642 SHOTWELL S ANDERSON- see ANDERSON-SHOTWELL S SAUNDERS J G C see STONE C et al SHULMAN L P, THARAPEL A T, SIMPSON J L, MEYERS C M, SAVAGE R K and FITCHETr M When does the fra(X) event TUCKER B, WEISSKOPF B, and ELIAS S Three occur? 285 abst different, non-mosaic sex chromosome SCAHILL S J see SAMPSON J R et al abnormalities (direct cytotrophoblasts, Author index 815

mesenchymal core cultures, and abortus skin SOMMER D, and COUTELLE C Possibilities and fibroblasts): implications for elucidating limitation of prenatal diagnosis and carrier chorionic villi mosaicism: short report 791 determination for Duchenne and Becker SIBERT J see CURTIS M A et al muscular dystrophy using cDNA probes 1 SIBERT J R see NORMAN A M et al SPELEMAN F, CRAEN M, and LEROY J De novo terminal SIDDIQUE T, ROPER H, PERICAK-VANCE M A, SHAW J, deletion 7p22. 1-pter in a child without WARNER K L, HUNG W-Y, PHILLIPS K L, craniosynostosis; case report 528 LUNT P, CUMMING W J K, and ROSES A D SPIEGLER A W J see SPEER A et al Linkage analysis in the spinal muscular SPILLMANN T see BOLTSHAUSER B et al atrophy type of facioscapulohumeral SPOWART G see CHANDLEY A C et al disease 487 SPRANGER J see MENGER H et al see also SARFARAZI M et al STARR J, ROBINSON D, HARVEY J, and LAMONT M Linkage SIERRA I A see WARD J et al studies on an X linked centronuclear SIGURDSSON G see TAYLOR R et al myopathy (CNM) family 594 abst SILLS M A see ROBERTS P et al STEPHENSON J B P see SAMPSON J R et al SIM D see NEVIN J et al YATES J R W et al SIMPSON J L see SHULMAN L P et al STEYN K, WEIGHT M J, DANDO B R, CHRISTOPHER K J, and SIMPSON S, SMAIL P, DEAN J, HAITES N, and JOHNSTON RossoUw J E The use of low density A W Genital anomalies, polydactyly, and lipoprotein receptor activity of lymphocytes retinitis pigmentosa: a new syndrome? 211 to determine the prevalence of familial abst hypercholesterolaemia in a rural South Afri- see also FAIRWEATHER N et al can community 32 SINET P M see HURET J L et al STRACHAN T see COLLIER S et al SINNOTT P J, DYER P A, PRICE D A, HARRIS R, and HARRIS R et al STRACHAN T 21-hydroxylase deficiency fami- SINNOTr P J et al lies with HLA identical affected and un- STRAIN L, CURTIS A, MENNIE M, HOLLOWAY S, and BROCK affected sibs 10 D J H Use of linkage disequilibrium data in see also COLLIER S et al prenatal diagnosis of cystic fibrosis 213 abst SMAIL P see SIMPSON S et al STEINHERZ R see LEVY I et al SMITH A, FRASER I S, SHEARMAN R P, and RUSSELL P STEINMANN B see SUPERTI-FURGA A et al Blepharophimosis plus ovarian failure: a STERN L M see SUTHERS G K et al likely candidate for a contiguous gene STONE C, SAUNDERS J G C, LIVESEY P, and REDDY K S syndrome 434 Unbalanced abnormalities of the short arm SMITH J see REBELLO M T et al of chromosome 12 285 abst ROONEY D E et al see also BURVILL-HOLMES L et al SMITH J C see IVINSON A J et al STORRAR L KERZIN- see KERZIN-STORRAR L SMITH J CLAYTON- see CLAYTON-SMITH J SUMMERS D see PEMBREY M et al SMITH M see CROLLA J A et al SUPER M see IVINSON A J et al SMITH M A FERGUSON- see FERGUSON-SMITH M A PEMBREY M et al SMITH M E FERGUSON- see FERGUSON-SMITH M E SUPERTI-FURGA A, PISTONE F, ROMANO C, and STEINMANN SMITH R A see CURTIS M A et al B Clinical variability of osteogenesis imper- SMITHELLS R W see SHEPPARD S et al fecta linked to COL1A2 and associated with SMYTHE R H see ROMAIN D R et al a structural defect in the type I collagen SNELL R G, LAZAROU L P, YOUNGMAN S, QUARRELL molecule 358 0 W J, WASMUTH J J, SHAw D J, and HARPER SUTHERS G K, MANSON J I, STERN L M, HAAN E A, and P S Linkage disequilibrium in Huntington's MULLEY J C Becker muscular dystrophy disease: an improved localisation for the (BMD) and Klinefelter's syndrome: a possi- gene 673 ble cause of variable expression of BMD SNODGRASS G J A I see HITMAN G A et al within a pedigree 251 SOLINAS A see FIGUS A et al SWAN A V see BEECH R et al SOLOMON E see BROOKES A J et al RONA R J et al SOMMER D see SPEER A et al SWINDLEHURST C A see GLASS I A et al SONODA T see OHDO S et al SYKES B see BROOKES A J et al SOUTH S see SHAW J et al SZEGO K see LESSICK M L et al SPAK D K, JOHNSTON K, and DONLON T A A non- SZOLLAR J Cytogenetic investigation in Fanconi centromeric C band variant on chromo- anaemia 286 abst some 11q23-2: case report 532 see also FIFER A M et al SPATHOS D see FERGUSON-SMITH M E et al SPEED R M see CHANDLEY A C et al TAKAYA K see SATO H et al SPEER A, SPIEGLER A W J, HANKE R, GRADE K, GIERTLER TAKEDA K, OKAMURA T, and HASEGAWA T Sibs with U, SCHIECK J, FORREST S, DAVIES K E, tetrasomy 18p born to a mother with trisomy NEUMANN R, BOLLMANN R, BOMMER C, 18p: case report 195 816 Author index

1'AMIR B BONNE- see BONNE-TAMIR B see also PORTEOUS M E et al TAN K C and Ho N K Current trends in the prevalence at TOLMIE J L, COOKE A, GREIG C, COLGAN J, and CONNOR birth of neural tube defects in Singapore: J M Investigation of a 'balanced' transloca- correspondence 412 tion by flow cytometry 597 abst TANZER J see HURET J L et al see also MACGREGOR D J et al TAYLOR A M R see YATES J R W et al SHEPHERD R C et al TAYLOR R, BRYANT J, GUDNASON V, SIGURDSSON G, and TRENT R J and WALLACE R C Alpha thalassaemia: a HUMPHRIES S A study of familial hyper- potential source of error in DNA linkage cholesterolaemia in Iceland using RFLPs studies for adult polycystic kidney disease 6 494 TUCKER B see SHULMAN L P et al see also HUMPHRIES S et al TUCKER S M see RAINE J et al TEEBI A S and AL-SALEH Q A Autosomal dominant TUPLER R see MARASCHIO P et al sneezing disorder provoked by fullness of TURNELL R W see FAHY M et al stomach: correspondence 539 TYFIELD L A, MEREDITH A L, OSBORN M J, and HARPER P S see also FARAG T I and TEEBI A S Genetic analysis of different kinds of PKU in TEMPLE I K Stickler's syndrome: syndrome of the one family 598 abst month 119 Identification of the haplotype pattern associated and BARAITSER M Pitfalls in counselling of the blephar- with the mutant PKU allele in the Gypsy ophimosis, ptosis, epicanthus inversus syn- population of Wales 499 drome (BPES) 517 HODGSON S, ADES A, and PEMBREY M E Estimating the probability of gonadal mosaicism in mothers UHLMANN W see GORSKI J L et al of boys with Duchenne muscular dystrophy UMA R see FARAG T I et al from maternal creatine kinase levels 599 UPADHYAYA M, SARFARAZI M, HUSON S M, BROADHEAD W, abst FRYER A, and HARPER P S Flanking markers THOMPSON E M, HALL C M, BRIDGEMAN G, and PEMBREY for NF1 211 abst M E Kyphomelic dysplasia: case report 457 LUNT P W, BROADHEAD W, and HARPER P S A genetic see also REARDON W et al linkage study of facioscapulohumeral TEMPLE K, CALVERT M, PLINT D, THOMPSON E, and (Landouzy-Dejerine) disease with 24 poly- PEMBREY M Dominantly inherited cleft lip morphic DNA probes 490 and palate in two families 386 see also MEREDITH L et al TErTENBORN M A see HURST J A et al NORMAN A M et al THAKE A see BUNDEY S et al ROBERTS S H et al THARAPEL A T see SHULMAN L P et al SARFARAZI M et al THEILMANN J, KANANI S, SHIANG R, ROBBINS C, QUARRELL USHA R see FARAG T I et al 0, HUGGINS M, HEDRICK A, WEBER B, COLLINS C, WASMUTH J J, BUETOw K H, MURRAY J C, and HAYDEN M R Non-random association between alleles detected at VADERA P see BEECH R et al D4S95 and D4S98 and the RONA R J et al Huntington's VAN BROECKHOVEN C see BAKKER E et al disease gene 676 VAN DEN BERGHE THOMAS N see NORMAN A et al H see FRYNS J P et al THOMAS N S T see LEGIUS E et al NORMAN A M et al PEMBREY M et al THOMPSON E see DONNAi D et al VAN HAERINGEN A see HURST J A et al PEMBREY M et al VAN OMMEN G J B see BAKKER et TEMPLE K et E al al VANCE M PERICAK- see PERICAK-VANCE THOMPSON E M, GORDON A, and BARAITSER M X M linked VANCE M A PERICAK- see PERICAK-VANCE M A mental retardation: a family with a separate VAZ R see FIGUEIREDO J et al syndrome? 373 VECCHIO C see CHIARELLA F et al see also TEMPLE I K et al VEENEMA H see BAKKER E et al THOMSON D A G see CLARKE M J et al BEVERSTOCK G C et al DAVIS G S et al VERGANI G MIELI- see MIELI-VERGANI G FIFER A M et al VERMEULEN-MEINERS C see HENNEKAM R C M and TIEPOLO L see MARASCHIO P et al VERMEULEN-MEINERS C TIJDINK G SCHREPPERS- see SCHREPPERS-TIJDINK G VIRGILIS S DE see DE VIRGILIS S Tocco A see FIGUS A et al VIVARELLI R see RIVERA H et al TODD J see BUNDEY S et al Voss R see GOODMAN R M et al TOLMIE J, BOYD E, DUFFIE E, COLGAN J, YATES J R W, and VOULLAIRE L E, WEBB G C, and LEVERSHA M Fragile X COOKE A Genetic counselling difficulties testing in a diagnostic cytogenetics with duplication and deficiency of 18p 215 laboratory 439 abst VUORIO E see ELIMA K et al Author index 817

WADE J see LYTLE C et al behaviour associated with interstitial dele- WALLACE R C see TRENT R J and WALLACE R C tion of chromosome 18 (q12.2q21.1): short WALLIS C see BALLO R et al report 62 WALLIS C E and BEIGHTON P H Synchrony of oculo- WILSON J see HARBORD M G et al cutaneous albinism, the Prader-Willi syn- WILSON 0 see RONA R J et al drome, and a normal karyotype: case WILSON 0 M see BEECH R et al report 337 WILSON W G see ANDSERSON-SHOTWELL S and WILSON WALLIS G see BALLO R et al W G WALLIS J see SHAW J et al WINSHIP I see SAMPSON J R et al WARBURG M and M0LLER H U Dystrophy: a revised WINTER R M Winchester's syndrome: syndrome of the definition 769 month 772 WARD J, SIERRA I A, and D'CROZ E Cat eye syndrome and DONNAI D A possible human homologue for the associated with aganglionosis of the small mouse mutant disorganisation 417 and large intestine: case report 647 HARDING B N, and HYDE J Unknown syndrome: WARNER K L see SIDDIQUE T et al pachygyria, joint contractures, and facial WASMUTH J J see SNELL R G et al abnormalities: dysmorphology report 788 THEILMANN J et al PATrON M A, CHALLENER J, MUELLER R F, and WATERS J J, DOUGLAS J B, CARRI-TT B, DALY M C, and BARAITSER M Moore-Federman syndrome RABBITTrS P H One step into carcinogenesis: and acromicric dysplasia: are they the same chromosome 3 and carcinoma 286 abst entity? 320 see also HODGSON S et al see also BRUETON L A et al WATSON M S, McALLISTER-BARTON L, MAHONEY M J, and DONNAI D and WINTER R M BREG W R Deletion (12) (ql5q21.2): short MAcDERMoTT K D et al report 343 RAINE J et al WATr J see COUZIN D et al WOLFF G, DEUSCHL G, WIENKER T F, HUMMEL K, BENDER WATT J L see CLARKE M J et al K, LOCKING C H, SCHUMACHER M, HAMMER DAVIS G S et al J, and OEPEN G New mutation to Hunting- WATTERS A see ELLES R G et al ton's disease 18 WATrERS E A see HODGKINSON K A et al MULLER C R, and GRIMM T Benign muscular dystrophy: WEATHERALL D J see OLD J M et al risk calculation in families with con- WEAVER C M see BAMFORTH J S et al sanguinity 299 WEBB G C see VOULLAIRE L E et al WOLSTENHOLME J, HOOGWERF A M, SHERIDAN H, and WEBER B see THEILMANN J et al LITrLE D A The use of transabdominal WECKERT R C see FURNESS M E et al placental biopsies as a possible alternative to WEICH H F H see KOTZE M J et al amniocentesis 284 abst WEIGHT M J see STEYN K et al WONG P W K see LESSICK M L et al WEIR J see DEAN J C S et al WEISSKOPF B see SHULMAN L P et al YEN F-S et al YASSIN S see FARAG T I et al WHITEHOUSE D B, ABBOTT- C M, LOVEGROVE J U, MCIN- YATES J R W, MALCOLM S, and READ A P Guidelines for TOSH I, MCMAHON C J, MIELI-VERGANI G, DNA banking. Report of the Clinical Gene- MOWAT A P, and HOPKINSON D A Genetic tics Society working party on DNA studies on a new deficiency gene (PI*Z,,n) at banking 245 the PI locus 744 TAYLOR A M R, CARACHI R, STEPHENSON J B P, BOYD E, POOLE C J M, KIND P R N, and HOPKINSON D A and YOUNG D G A new chromosomal Rhodanese isozymes in three subjects with instability syndrome with tissue specific Leber's optic neuropathy 113 radiosensitivity 208 abst WIEGERS A see CURFS L M G et al see also CROSSLEY J A et al WIENKER T F see WOLFF G et al MAHER E R et al WIERZBICKI A S see LOLIN Y et al NEWMAN R S et al WILCOX D E see COOKE A et al SAMPSON J R et al WILD J see SHEPPARD S et al TOLMIE J et al WILKINSON I see FAGAN K et al YEN F-S, PODRUCH P E, and WEISSKOPF B A terminal WILLIAMS A J see PATrON M A et al deletion (14)(q31.1) in a child with mic- WILLIAMS C see IVINSON A J et al rocephaly, narrow palate, gingival hypertro- WILLIAMS J see ROBERTS P et al phy, protuberant ears, and mild mental WILLIAMS K see ROONEY D E et al retardation: case report 130 WILLIAMS M J H see MACDERMOT K D et al YOUNG D G see YATES J R W et al WILLIAMSON B see IVINSON A J et al YOUNG I D Cranioectodermal dysplasia (Sensenbrenner's SHAW J et al syndrome): syndrome of the month 393 WILLIAMSON R see GOATE A M et al and LAMONT A C Thanatophoric dysplasia in identical WILSON G N and AL SAADI A A Obesity and abnormal twins: correspondence reply 735 818 Author index

MCKEEVER P A, BROWN L A, and LANG G D Prenatal ZAHED L see LLERENA J et al diagnosis of the megacystis-microcolon- ZANCAN L see FIGus A et al intestinal hypoperistalsis syndrome: case ZARINI G see FELDMANN M et al report 403 ZEITUNE M see CROSSLEY J A it al PATEL I, and LAMONT A C Thanatophoric dysplasia in ZLOTOGORA J and NUBANI N Is there an autosomal identical twins: case report 276 recessive form of the split hand and split foot see also CHEN K et al malformation?: case report 138 YOUNG P R see FIFER A M et al ZUFFARDI 0 see RIVERA H et al YOUNGMAN S see SNELL R G et al ZWETSLOOT C P, BROUWER 0 F, and MAASWINKEL-MOOY P D Holoprosencephaly: variation of ex- pression in face and brain in three sibs: ZACHER J E see FINEGAN J K et al case report 274 SUBJECT INDEX TO VOLUME 25

Note: All notices for conferences, symposia, and meetings are under one heading: ANNOUNCEMENTS

Aarskog's syndrome, clinical and genetic aspects 210 abst ANNOUNCEMENTS Abortion and molecular genetics 219: Brain insults in infants and children: diagnosis and correspondence 794 modern management, conference March 1989, Acetylcholinesterase, prospective prenatal screening for California 144 quantitative Department of Medical Genetics, University of fetal abnormalities using Antwerp 544 immunoassay 211 abst EMBO Workshop, Chromosome 21: Impact of the Acromicric dysplasia, and Moore-Federman syndrome, New Genome Technology in Human Genetics, are they the same entity? 320 May 1989 352 Acyl-CoA dehydrogenase medium chain region, RFLP European School of Medical Genetics, third course analysis 600 abst Italy, April 1990 672 Adams, Joseph (1756-1818): portraits in medical European Society of Human Genetics 23rd Annual genetics 116 Symposium, Greece, May 1990 672 Adenomatous polyposis, familial, and chromosome 5q International Symposium on New Horizons in deletion: short report 61 Pediatric Neurosurgery/Neurology, Israel, June Aganglionosis of small and large intestine, associated with 1990 544 cat eye syndrome: case report 647 Second South African Society of Human Genetics Albinism, oculocutaneous, Prader-Willi syndrome, and Congress, Durban, August/September 1989 477 normal karyotype: case report 337 Sixth International Clinical Genetics Seminar, Allelic association for cystic fibrosis testing 426 Greece, May 1990 672 Third International Workshop on the 'At Risk' Infant, Alpha, antitrypsin deficiency, characterisation of Israel, July 1990 544 variants 596 abst Third Meeting of the Association of Mediterranean Alphafetoprotein Child Neurology, Israel, September 1989 544 low maternal serum values in screening for pregnancies Transforming Growth Factor-Betas: Chemistry, with chromosomal aneuploidies 284 abst Biology and Therapeutics Conference, Arlington, screening and autosomal trisomies 598 abst VA, USA, May 1989 144 Alzheimer's disease locus maps close to centromere on 3rd CGS Training Course in Medical Genetics, long arm of chromosome 21 595 abst Glasgow, September 1989 544 Amaurosis, congenital, cone-rod, associated with con- 3rd International Conference on Thalassaemia, genital hypertrichosis, autosomal recessive Sardinia, April 1989 144 condition 504 8th International Congress of Human Genetics, Amniocentesis Washington USA, October 1991 672 clinical significance of de novo structural rearrange- 21st Symposium of the European Society of Human ments and markers detected prenatally by: Genetics. Genetics in Cancer and Development, editorial 545 The Netherlands, May 1989 144 early, for chromosome analysis, preliminary evalua- APKD families, recombination or heterogeneity 595 abst tion 284 abst Apple peel syndrome in sibs: short report 67 cytogenetic evaluation of 60 cases 596 abst Association of Clinical Cytogeneticists meeting, Edin- experience of 222 cases 596 abst burgh, July 1988, abstracts 282 midtrimester, child outcome after, development and Association of Physicians of Great Britain and Northern physical status at four years of age 211 abst Ireland, Oxford, 14 to 15 April 1989: con- predicting outcome of de novo balanced translocations: ference report 733 short report 590 Ataxia telangiectasia syndrome, spontaneous and induced transabdominal placental biopsies as alternative to 284 chromosome breakage in chorionic villus abst samples 174 Amnion rupture, early, disorganisation as model for 421 Auralcephalosyndactyly, new craniosynostosis syndrome Aneuploidies, chromosomal, predictive value of low or variant of Saethre-Chotzen syndrome: maternal serum alphafetoprotein values in case report 522 screening for pregnancies with 284 abst Autosomal recessive nephropathy, deafness, and hyper- Angelman's syndrome parathyroidism, a new syndrome 289 association with deletions within 15qll-13 73 Autosomal recessive, or X linked?, new approach to old and 15qll-13 deletions: correspondence 538 problem 305 819 820 Subject index

B cell tumours, cytogenetics 285 abst HALL B K and HORSTADIUS S. The neural crest, Becker muscular dystrophy 1988 671 carrier detection using new RFLP 599 abst HARPER P S Practical genetic counselling. 3rd edition, correlation of clinical and deletion data 682 1988 799 families, analysis with cDNA probes, Scotland 601 abst HARRIS H and HIRSCHHORN K editors: Advances Becker muscular dystrophy and Klinefelter's syndrome, in human genetics, volume 17, 1988 480: possible cause of variable expression of volume 18, 1989 799 BMD within a pedigree 251 HEIM S and MITELMAN F Cancer cytogenetics, and limb-girdle muscular dystrophy, dystrophin cDNA 1987 72 probes for differential diagnosis 593 abst KALTER H editor: Issues and reviews in teratology, polymerase chain reaction in diagnosis 593 abst volume 4, 1988 668 prenatal diagnosis and carrier determination 1 LAU Y-F editor: Endocrine genes: analytical methods, survey of manifesting carriers, Wales 212 abst experimental approaches, and selected systems, Bedouins, anencephaly a vanishing problem: corres- 1988 414 pondence 538 LEVITAN M Textbook of human genetics. 3rd edition, Beta-glucuronidase, 7q interstitial deletions, and exclusion 1988 351 mapping of gene for 619 MACGILLIVRAY I, CAMPBELL D M and THOMPSON B Beta-thalassaemia, molecular basis, Bulgaria 614 editors: Twinning and twins, 1988 800 McKUSICK V A Mendelian inheritance in man. Birmingham births study, ethnic group, consanguinity, and Catalogs of autosomal dominant, autosomal perinatal mortality 207 abst recessive, and X-linked phenotypes. 8th edition, Bisatellited marker, double, prenatal diagnosis confirma- 1988 414 tion by flow sorting 598 abst MASCIE-TAYLOR C G N and BOYCE A J editors: Blepharophimosis Human mating patterns. Society for the study of plus ovarian failure, likely candidate for contiguous gene human biology symposium 28, 1988 541 syndrome 434 MEHES K Informative morphogenetic variants in ptosis, epicanthus inversus syndrome (BPES) pitfalls in the newborn infant, 1988 797 counselling 517 MILUNSKY A Choices, not chances-an essential guide BOOK REVIEWS to your heredity and health, 1989 668 BEIGHTON P Inherited disorders of the skeleton. 2nd MITELMAN F Catalog of chromosome aberrations in edition, 1988 350 cancer. 3rd edition, 1988 72 BRAUDE N C and ZIMMERMAN A M editors: Genetic MOORE K L The developing human. Clinically and perinatal effects of abused substances, oriented embryology. 4th edition, 1988 608 1987 143 NoRA J J and FRASER F C Medical genetics: principles CALDWELL M L and TAYLOR R L editors: Prader-Willi and practice, 3rd edition, 1989 669 syndrome: selected research and management OPITZ J M, PULLARKAT R K, REYNOLDS J F, and issues, 1988 797 SPANO L M editors: Ceroid-lipofuscinoses. CAMPBELL A, BAKER B, and HERSKOVITZ I editors: Batten disease and allied disorders, 1988 542 Annual review of genetics, volume 22, 1988 669 RODECK C H editor: Fetal diagnosis of genetic CHEN H Medical genetics handbook, 1988 608 defects. Bailliere's Clinical obstetrics and gynae- CONGRESS OF THE UNITED STATES, OFFICE OF cology, volume 1, No 3, 1987 479 TECHNOLOGY ASSESSMENT Mapping our genes, RYAN T J and CHERRY G W editors: Vascular birth- genome projects: how big, how fast? 1988 350 marks: pathogenesis and management, 1987 DANIEL A editor: The cytogenetics of mammalian 797 autosomal rearrangements, 1988 415 SALINAS C F, OPITZ J M, and PAUL N W editors: DAVIES K E editor: Genome analysis: a practical Recent advances in ectodermal dysplasias, approach, 1988 478 1988 543 DAVIES K E and READ A P Molecular basis of in- SINET P M, LAMOUR Y, and CHRISTEN Y editors: herited disease, 1988 541 Genetics and Alzheimer's disease, 1988 798 DRONAMRAJU K R The foundations of human VERMA R S editor: Heterochromatin: molecular and genetics, 1989 668 structural aspects, 1988 352 DUNSTAN G R and SELLER M J editors: The status of WILLEY A M editor: Nucleic acid probes in diagnosis the human embryo: perspectives from moral of human genetic diseases, 1988 670 tradition, 1988 351 Zrenner E, Krastel H, and GOEBEL H-H editors: EDWARDS J H, LYON M F, and SOUTHERN E M editors: Research in retinitis pigmentosa. Advances in The prevention and avoidance of genetic disease, the Biosciences, volume 62, 1987 478 1988 479 Bone dysplasias, congenital generalised, clinical, radio- EMERY A E H Duchenne muscular dystrophy. Oxford logical, and epidemiological survey 37 monographs on medical genetics No 15. Revised Bulgaria, beta thalassaemia, molecular basis 614 edition, 1988 416 EMERY A E H and MUELLER R F Elements of medical C band variant, non-centromeric, on chromosome genetics. 7th edition, 1988 143 11q23.2: case report 532 Subject index 821

Calcitonin-CGRP gene in infantile hypercalcaemia/ non-isotopic in situ hybridisation: case report Williams-Beuren syndrome 609 192 Carrier X abnormality in XX males using dual laser, bivariate detection and early diagnosis of Wilson's disease by flow karyotype analysis and flow sorted dot restriction fragment length polymorphism blots 596 abst analysis 78 X long arm localisation of gene for Hunter's syndrome estimations and deletion mapping in Duchenne muscular 309 dystrophy families, Northern Ireland 212 Y specific probes identify breakpoint in 45,X/46,X,del abst (Y)(pter-*ql1.1:) karyotype of infertile Cat eye syndrome associated with aganglionosis of small male: case report 330 and large intestine: case report 647 Yq deletion with sterility, son of satellited Yqs man cDNA 145 probes, dystrophin for differential diagnosis between balanced rearrangement, rcp t(8;11)(q24.3;plS.1) Becker muscular dystrophy and limb-girdle associated with familial mental retardation: muscular dystrophy 593 abst case report 642 in analysis of Duchenne and Becker muscular dys- breakage, spontaneous and induced chorionic villus trophy families, Scotland 601 abst samples, ataxia telangiectasia syndrome Centromere inactivation, alternate, in pseudodicentric 174 (15;20)(pter;pter) associated with progres- breakpoint definition, near to Huntington's disease sive neurological disorder 626 locus 214 abst Centronuclear myopathy family, X linked, DNA linkage instability syndrome, new, with tissue specific radio- studies 594 abst sensitivity 208 abst Charcot-Marie-Tooth disease type I is not linked to a unusual case 286 abst chromosome 1 linkage group 208 abst males in institution for mentally handicapped 379 non-mosaic sex, three different: implications for eluci- CHARGE association, limb anomalies: dysmorphology dating chorionic villi mosaicism, short report 202 report, 791 Chemotherapy pairing asymmetry, major factor in de novo mutation combination, DNA fingerprint changes 599 abst and production of genetic disease 546 minisatellite probes used to study DNA damage 210 pseudodicentric (15;20)(pter;pter) with progressive abst neurological disorder 626 Choanal see also Deletions: Duplications: Translocations: atresia, feature of ectrodactyly-ectodermal dysplasia- Trisomies clefting syndrome: case report 586 Cleft stenosis, short stature, developmental delay, dys- lip and palate, dominantly inherited, two families 386: morphic facial features, and congenital heart correspondence 797 disease, brother and sister, unknown palate, spiky hair, and congenital hypothyroidism, a new syndrome: dysmorphology report 407 syndrome?: case report 49 Chorionic Clinical Genetics Society, meeting Aberdeen, September gonadotrophin, maternal serum levels in Down's 1988, abstracts 207 syndrome pregnancies 596 abst Cockayne's syndrome, early onset, case reports with villi mosaicism, three different, non-mosaic sex chromo- neuropathological and fibroblast studies some abnormalities: short report 791 154 villus samples and maternal DNA 595 abst COL1A2 haplotype, clinical variability of osteogenesis preparations, direct, semi-automatic slide spreading imperfecta linked to 358 method 283 abst COL2A1 gene, exclusion, as mutation site in diastrophic Chromosomes dysplasia 314 2, familial inversion, abnormal chromosome comple- Collagen molecule, type I, structural defect and clinical ment resulting from: case report 725 variability of osteogenesis imperfecta linked 3 and lung carcinoma, one step into carcinogenesis 286 to COL1A2 358 abst Cone-rod congenital amaurosis associated with congenital 8, partial monosomy of short arm, with unbalanced hypertrichosis, autosomal recessive con- rearrangement of unknown satellited dition 504 material 598 abst Congenital heart disease 9, human, linkage of Friedreich's ataxia 209 abst choanal stenosis, short stature, developmental delay, 11q23.2, non-centromeric C band variant: case report and dysmorphic facial features in brother 532 and sister, unknown syndrome: dysmorphol- 18p tetrasomy, sibs with 18p trisomy mother: case ogy report 407 report 195 ptosis, hypodontia, and craniosynostosis, unknown 18p- syndrome with partial sacral agenesis: corres- syndrome: dysmorphology report 664 pondence 70 Contiguous gene syndrome, blepharophimosis plus 46,X,+mar, identification and characterisation using ovarian failure, likely candidate for 434 822 Subject index

Corpus callosum agenesis, hypohidrotic ectodermal dys- cance detected prenatally by amniocentesis: plasia, and primary hypothyroidism: case editorial 545 report 520 terminal deletion 7p22-1-pter in child without cranio- CORRESPONDENCE synostosis: case report 528 Absent or hypoplastic extraocular muscles? 216 Deafness Anencephaly: a vanishing problem in Bedouins? 538 hyperparathyroidism, and autosomal recessive nephro- Angelman's syndrome and 15qll-13 deletions 538 pathy, a new syndrome 289 Association of 13q deletion and Hirschsprung's X-linked, with stapes fixation and cloned DNA sequence disease 796 on long arm of X chromosome 209 abst Autosomal dominant sneezing disorder provoked by Deletions fullness of stomach 539 1, long arm, terminal, two cases 284 abst Current trends in the prevalence at birth of neural 2(q33q36), interstitial, child with congenital abnormali- tube defects in Singapore 412 ties: short report 204 Dominantly inherited cleft lip and palate 797 2, long arm, interstitial, long arm with normal levels of Genetic heterogeneity in Waardenburg's syn- isocitrate dehydrogenase: case report 127 drome 411 del(4)(q33q35.1) interstitial, mother and two children: Hirschsprung's disease, distinctive facies, and micro- case report 652 cephaly 287 4q (q21.1::q22.1) interstitial: case report 644 Iris coloboma, ptosis, hypertelorism, and mental del(4)(q33--qter) in mild dysmorphism, child: case retardation: a new syndrome 69 report 776 Lethal osteogenesis imperfecta 410 5q and familial adenomatous polyposis: short report 61 Murderous science and the abuse of genetics 476 6p, and duplication 9p: short report 64 18p- syndrome with partial sacral agenesis 70 7q, interstitial deletions, exclusion mapping of gene for Reproductive behaviour and consistent patterns beta-glucuronidase 619 of abnormality in offspring of Vietnam 7p22.1-pter, terminal, de novo, child without cranio- veterans 602 synostosis: case report 528 Short rib syndrome without polydactyly 346 8q, partial, without Langer-Giedion syndrome 167 Single base pair alterations as the predominant 9p with duplication 6p: short report 64 category of mutation in type I osteogenesis 10q25.2-.q26.1, interstitial: case report 58 imperfecta 410 1lpl2 familial interstitial, without phenotypic effect, Teratogenicity of ergotamine 69 prenatal diagnosis 283 abst Thanatophoric dysplasia in identical twins 735 llq interstitial: short report 205 Triphalangeal thumb 477 (12)(q15q21.2): short report 343 Counselling, genetic see Genetic counselling 13q, distal, interstitial, associated with Hirschsprung's Cranioectodermal dysplasia (Sensenbrenner's syndrome): disease 100: correspondence 796 syndrome of the month 393 (14)(q31.1), terminal, microcephaly, narrow palat&, Craniosynostosis syndrome, new, or variant of Saethre- gingival hypertrophy, protuberant ears, and Chotzen syndrome, auralcephalosyndactyly: mild mental retardation, 11 year old girl: case report 522 case report 130 Cryofibrinogen, precipitating at 35°C, familial, associated within 15qll-13 associated with Angelman's syndrome with transient nephrotic syndrome after 73: correspondence 538 anaesthesia 631 (18)(pl 1.3-*pter) causing genetic counselling diffi- Cystic fibrosis culties 215 abst after the gene: editorial 737 (18), interstitial, associated with obesity and abnormal applications of polymerase chain reaction 214 abst behaviour: short report 62 associated with T cell receptor beta chain polymor- 45,X/46,X,del (Y) (pter-*qll.1:), chromosome Y speci- phisms 431 fic probe to identify breakpoint: case report carriers, T cell receptor beta chain polymorphism 330 associated with 214 abst Deletion, Yq in sterile son of man with satellited Y DNA linkage disequilibrium data in prenatal diagnosis chromosome 145 213 abst mapping and carrier estimations of Duchenne muscular DNA probes 283 abst dystrophy families, Northern Ireland 212 XV2c/KMI9, linkage disequilibrium between, North- abst ern Ireland 213 abst Diaphragm defects, congenital, discordant non-syndromic, families with five linked, West Midlands 213 abst in sibs: case report 781 families, use of haplotype analysis, Scotland 594 abst , exclusion of COL2A1 gene as testing using allelic association 426 mutation site 314 DiGeorge's syndrome, features in child with X;22 trans- location: case report 778 Digital abnormalities, ichthyosis, and unusual facies, new De novo recessive syndrome: case report 339 structural rearrangements and markers, clinical signifi- Disorganisation as model for early amnion rupture 421 Subject index 823

Disorganisation, mouse mutant, possible human homo- in Turner's syndrome 594 abst logue for 417 technology, importance for future: conference report 733 DNA ten different polymorphisms at LDL receptor gene alleles, three, linked to Duchenne muscular dystrophy locus 255 gene, population frequencies: short com- in Wolf-Hirschhorn syndrome, parental origin 587 munication 390 abst banking guidelines, report of Clinical Genetics Society and zinc finger genes 599 abst working party on DNA banking 245 Down's syndrome in carrier detection and early diagnosis of Wilson's childhood deaths, Queensland, Australia, 1976 to disease by restriction fragment length poly- 1985 764 morphism analysis 78 male, and fertility 294 and prenatal diagnosis in direct identification in mosaic, unusual case involving two different Robert- haemophilia B 595 abst sonian translocations: case report 198 in cystic fibrosis 283 abst pregnancies, maternal serum chorionic gonadotrophin five linked probes, cystic fibrosis families, West levels 596 abst Midlands 213 abst without detectable karyotypic anomaly but with micro- and XV2cIKM19, linkage disequilibrium between, duplication within chromosome 21 282 abst Northern Ireland 213 abst Duchenne muscular dystrophy D4S1O locus in presymptomatic testing for Huntington's carrier detection using new RFLP 599 abst disease 214 abst carrier estimations and deletion mapping, Northern D4S98, D4S95, and Huntington's disease gene 676 Ireland 212 abst (DXYSI) in linkage study of segregating for X linked correlation of clinical and deletion data 682 Charcot-Marie-Tooth disease, Scotland deletion, misdiagnosed normal fetus owing to un- 215 abst detected germinal mosaicism: short report diagnosis as diagnostic service: editorial 217 790 diagnosis in National Health Service, Great Britain estimating probability of gonadal mosaicism in mothers 219: correspondence 794 from maternal creatine kinase levels 599 in Duchenne and Becker muscular dystrophy 599 abst abst in dystrophia myotonica, Scotland 213 abst families, analysis with cDNA probes, Scotland 601 abst in familial hypercholesterolaemia diagnosis 594 abst gene, three DNA alleles linked to, population frequen- fetal, amplified, prenatal diagnosis of beta thalassaemia cies: short communication 390 based on restriction endonuclease analysis mutations, new, germinal mosaicism increases recurr- 363 ence risk 553 fingerprint changes in combination chemotherapy 599 polymerase chain reaction in diagnosis 593 abst abst prenatal diagnosis and carrier determination 1 genetic services in context, what do they cost? 237 survey of manifesting carriers, Wales 212 abst in identification for haplotype pattern for PKU allele, Wales, 15 year study, 1971 to 1986 560 Gypsy population of Wales 499 impact of DNA linkage analysis and cDNA deletion linkage, alpha thalassaemia as potential source of error screening 565 for adult polycystic kidney disease 6 Duplications application of in situ hybridisation to diagnostic disequilibrium data in prenatal diagnosis of cystic cytogenetics 215 abst fibrosis 213 abst 6p and deletion 9p: short report 64 for presymptomatic detection and prenatal diagnosis additional case of myotonic dystrophy 750 distal 17q from maternal translocation, studies on X linked centronuclear myopathy family with unique features: case report 577 594 abst Dwarfism, 3M, study of two further sibs: case report 583 in prenatal exclusion testing for Huntington's disease Dysequilibrium syndrome 208 abst 83 Dysmorphic facial features, congenital heart disease, maternal, in chorionic villus samples 595 abst choanal stenosis, short stature, and develop- mitochondrial, in Leber's hereditary optic neuro- mental delay, brother and sister, unknown pathy 739 syndrome: dysmorphology report 407 in Norrie's disease 600 abst Dysmorphism, mild, del(4)(q33-*qter), child: case for prenatal testing for Huntington's disease, different report 776 options 353 Dystrophia myotonica, DNA probing, Scotland 213 abst polymorphisms in facioscapulohumeral disease, genetic Dystrophin linkage study 490 cDNA probes for differential diagnosis between Becker probe testing, demand for in three genetic centres, muscular dystrophy and limb-girdle muscular Great Britain, August 1986 to July 1987 dystrophy 593 abst 226 gene deletions in males diagnosed as spinal muscular in resolution of 45,X/46,r(?) and 46,X,+mar karyo- atrophy 212 abst types 283 abst Dystrophy, a revised definition 769 824 Subject index

Ectodermal dysplasia, single maxillary incisor as mani- Friedreich's ataxia linkage to human chromosome 9 209 festation: case report 648 abst Ectrodactyly-ectodermal dysplasia-clefting syndrome, Frontonasal dysplasia choanal atresia as feature: case report 586 congenital heart defect, and short stature, further Ehlers-Danlos syndrome type IV, alpha I (III) CB5 observation: dysmorphology report 408 mutation 211 abst and Poland's syndrome 598 abst family with, recessive or dominant 210 abst Fryns' syndrome features and ring chromosome 15: Emery-Dreifuss syndrome: syndrome of the month 637 dysmorphology report 469 Ergotamine teratogenicity: correspondence 69 European Society for Human Genetics. Satellite meeting on meiotic .microspreading: conference Gastric cancer, distribution of haptoglobin pheno- report 141 types 172 Extraocular muscles, absent or hypoplastic: corres- Gastrointestinal abnormalities in mosaic trisomy 9 syn- pondence 216 drome: short report 280 Gene, new deficiency, PIZ4un, genetic studies 744 Genetics abuse, and murderous science: correspondence 476 Facial abnormalities, pachygyria, and joint contractures, counselling difficulties with duplication and deficiency of unknown syndrome: dysmorphology report 18p 215 abst 788 heterogeneity, in Leber's hereditary optic neuropathy Facies, 739 abnormal, hypothyroidism, postaxial polydactyly, and services in context of DNA probes, what do they severe retardation, unknown syndrome, a cost? 237 third patient: dysmorphology report 785 Genital anomalies, polydactyly, and retinitis pigmentosa, distinctive, microcephaly, and Hirschsprung's disease: new syndrome 211 abst correspondence 287 Germinal mosaicism increases recurrence risk for new unusual, digital abnormalities, and ichthyosis, new Duchenne muscular dystrophy mutations recessive syndrome: case report 339 553 Facioscapulohumeral disease Gonadal mosaicism, estimating probability, in mothers of genetic linkage study with 24 polymorphic DNA boys with Duchenne muscular dystrophy probes 490 from maternal creatine kinase levels 599 linkage analysis in spinal muscular atrophy type 487 abst (Landouzy-Dejerine) disease exclusion map 481 Gypsy population of Wales, identification of haplotype workshop, Manchester, 16 to 17 November 1988: pattern associated with mutant PKU allele conference report 535 499 muscular dystrophy, estimation of age dependent penetrance, by minimising ascertainment bias 755 genetic study 207 abst Haemoglobinopathy carrier screening, knowledge and linkage analysis of French families 485 perceptions among general practitioners, Familial adenomatous polyposis Cardiff 109 and chromosome 5q deletion: short report 61 Haemophilia B, DNA carrier and prenatal diagnosis in regional register, congenital hypertrophy of retinal direct identification 595 abst pigment epithelium as means of carrier Hand detection 207 abst split, and split foot malformation, possible autosomal Fanconi anaemia, cytogenetic investigation 286 abst recessive form: case report 138 Fertility in male with trisomy 21 294 unilateral absence, second cousins: case report 190 Flanking markers for NF1 211 abst Haplotype analysis in Scottish cystic fibrosis families 594 Flow cytometry investigation of balanced trans- abst location 597 abst Haptoglobin phenotypes distribution in oesophageal and Foot, split, and split hand malformation, possible auto- gastric cancer 172 somal recessive form: case report 138 Hearing loss in hereditary distal muscular atrophy 105 Fountain's syndrome, mental retardation, sensorineural Hereditary motor and sensory neuropathy type I is not deafness, skeletal abnormalities, and coarse linked to a chromosome 1 linkage group face with full lips: syndrome of the month 208 abst 722 Hirschsprung's disease Fragile X syndrome associated with interstitial deletion of distal 13q 100: intelligence and cognitive profile, longitudinal study in correspondence 796 18 fra(X) boys 443 and congenital central hypoventilation syndrome in half linkage analysis using DXS98 210 abst sibs: case report 272 testing in diagnostic cytogenetics laboratory 439 distinctive facies, and microcephaly: correspondence when does it occur 285 abst 287 Subject index 825

HLA Hypoplastic nose, microcephaly, exophthalmos, gum antigens matching significantly increases transplant hyperplasia, cleft palate, low set ears, and survival 207 abst , unknown syndrome: dysmor- identical affected and unaffected sibs in 21-hydroxylase phology report 786 deficient families 10 Hypothyroidism Holoprosencephaly, variation of expression in face and abnormal facies, postaxial polydactyly, and severe brain, three sibs: case report 274 retardation, unknown syndrome, a third Hunter's syndrome patient: dysmorphology report 785 gene localisation at distal region of X chromosome long congenital, spiky hair, and cleft palate, a new syn- arm '309 drome?: case report 49 (MPS IIB), mild, pituitary function studies: case report Hypoventilation syndrome, congenital central, and 731 Hirschsprung's disease in half sibs: case Huntington's disease report 272 clinical application of predictive testing using linked DNA markers 592 abst DNA, D4SJO locus in presymptomatic testing 214 abst ICF (immunodeficiency, centromeric heterochromatin, DNA markers in prenatal exclusion testing 83 facial anomalies) mutation, differential ex- gene, and non-random association between alleles pression in lymphocytes and fibroblasts 452 detected at D4S95 and D4S98 676 Ichthyosis, unusual facies, and digital abnormalities, new linkage disequilibrium 673 recessive syndrome 339 locus, definition of chromosomal breakpoint near Immunodeficiency, centromeric heterochromatin, facial to 214 abst anomalies (ICF) mutation, differential ex- new mutation 18 pression in lymphocytes and fibroblasts 452 prenatal exclusion testing using polymerase chain Infantile hypercalcaemia/Williams-Beuren syndrome, with reaction 214 abst calcitonin-CGRP gene 609 prenatal testing using DNA probes, different options Inversion (10) recombinants in a family, case of two: case 353 report 461 Hybridisation, in situ Iris coloboma, ptosis, hypertelorism, and mental retarda- application to diagnostic cytogenetics 215 abst tion: a new syndrome: correspondence 69 to human meiotic metaphase I (MI) preparations 282 Isocitrate dehydrogenase, normal levels, with interstitial abst deletion long arm of chromosome 2: case non-isotopic, in 46,X,+mar karyotype: case report 192 report 127 resolution of 45,X/46,r(?) and 46,X,+mar karyotypes Israel, medical genetics: medical genetics around the using X and Y specific probes 283 abst world 179 Hydrocephalus, tall stature, joint laxity, and kypho- Ivemark's syndrome and Mullerian duct anomaly in scoliosis, a new inherited disorder of monozygotic twins 597 abst connective tissue?: case report 51 21-Hydroxylase deficiency families with HLA identical affected and Johanson-Blizzard syndrome: syndrome of the month 45 unaffected sibs 10 Joint contractures, facial abnormalities, and pachygyria, long range mapping for analysing gene organisation unknown syndrome: dysmorphology report 209 abst 788 Hypercalcaemia, infantile Williams-Beuren syndrome, Joint laxity, tall stature, kyphoscoliosis, and hydrocepha- with calcitonin-CGRP gene 609 lus, a new inherited disorder of connective Hypercholesterolaemia, familial tissue?: case report 51 DNA probes in diagnosis 594 abst prevalence, rural South Africa 32 study using RFLPs, Iceland 494 Klinefelter's syndrome and Becker muscular dystrophy, Hyperparathyroidism, autosomal recessive nephropathy, possible cause of variable expression of and deafness, a new syndrome 289 BMD within a pedigree 251 Hypertelorism, mental retardation, iris coloboma, and Kyphomelic dysplasia: case report 457 ptosis: a new syndrome: correspondence 69 Kyphoscoliosis, hydrocephalus, tall stature, and joint Hypertrichosis laxity, a new inherited disorder of connective congenital, associated with cone-rod congenital tissue?: case report 51 amaurosis, autosomal recessive condition Kyphosis, Scheuermann's juvenile, dominant inheritance: 504 case report 400 cubiti (hairy elbows) and short stature, recognisable association 382 Hypohidrotic ectodermal dysplasia Landouzy-Ddjerine disease see Facioscapulohumeral primary hypothyroidism, and agenesis of the corpus disease callosum: case report 520 Langer-Giedion syndrome without partial deletion 8q, sweat pores and skin temperature patterns 592 abst recognisable syndrome 167 826 Subject index

Leber's hereditary optic neuropathy palate, low set ears, and osteosclerosis, genetic heterogeneity and mitochondrial DNA 739 unknown syndrome: dysmorphology report with rhodanese isozymes, three subjects 113 786 Limb narrow palate, gingival hypertrophy, protuberant ears, anomalies in CHARGE association: dysmorphology and mild mental retardation with terminal report 202 deletion (14)(ql3.1), 11 year old girl: case defects, and Van der Woude syndrome, chance of report 130 recurrence: correspondence 347 seizures, mental retardation, congenital heart disease, girdle muscular dystrophy and Becker muscular dys- and skeletal abnormalities, unknown syn- trophy, dystrophin cDNA probes for drome: dysmorphology report 665 differential diagnosis 593 abst Microduplication within chromosome 21, with Down's LINKAGE, in X linked or autosomal recessive inheritance syndrome, but without detectable karyotypic data 305 anomaly 282 abst Long range mapping, powerful method for analysing gene Minisatellite organisation at duplicated 21-hydroxylase probes to study DNA damage in chemotherapy 210 and complement C4 loci 209 abst abst Low density lipoprotein receptor gene locus, haplotypes regions, hypervariable, are hotspots for recombination identified by ten DNA restriction fragment at meiosis, man 282 abst length polymorphisms 255 Moebius' syndrome with unilateral cerebellar hypoplasia: Lumbosacral spina bifida, due to failure of neural folding case report 579 or by defective canalisation 160 Mohr's syndrome, central nervous system malformations: Lung carcinoma and chromosome 3, one step into carcino- case report 659 genesis 286 abst Molecular genetics as diagnostic service: editorial 217: evolution 209 3M dwarfism, study of two further sibs: case report 583 abst: correspondence 794 Mapping, long range, powerful method for analysing gene in National Health Service, Great Britain 219 organisation at duplicated 21-hydroxylase Monosomy 3q, partial, boy with short stature, develop- and complement C4 loci 209 abst mental delay, and mild dysmorphic features: Martsolf's syndrome, microcephaly, mental retardation, case report 729 cataracts, and hypogonadism in sibs: case Moore-Federman syndrome and acromicric dysplasia, are report 397 they the same entity? 320 Maxillary incisor, single, as manifestation of ectodermal Mortality, consanguinity related prenatal and postnatal, dysplasia: case report 648 of populations of seven Pakistani Punjab Medical genetics, Israel: medical genetics around the cities 267 world 179 Mosaicism, germinal, undetected, Duchenne muscular Megacystis-microcolon-intestinal hypoperistalsis syn- dystrophy deletion, misdiagnosed normal drome, fatal autosomal recessive condition: fetus: short report 790 short report 66: prenatal diagnosis: case Mouse mutant disorganisation, possible human homologue report, 403 for 417 Meiosis, recombination, hypervariable minisatellite Mullerian duct anomaly and Ivemark's syndrome in regions are hotspots for 282 abst monozygotic twins 597 abst Meiotic microspreading, European Society for Human Murderous science and genetics abuse: correspondence Genetics, satellite meeting: conference 476 report 141 Muscular atrophy Mental retardation hereditary distal, with vocal cord paralysis and sensori- familial, associated with balanced chromosome re- neural hearing loss, possible dominant form arrangement rcp t(8;11)(q24.3;pl5.1): case of spinal muscular atrophy 105 report 642 spinal, dystrophin gene deletions diagnosed as, males interstitial deletion, long arm of chromosome 2 with 212 abst normal levels of isocitrate dehydrogenase: hereditary distal muscular atrophy with vocal cord case report 127 paralysis and sensorineural hearing loss, iris coloboma, ptosis, and hypertelorism: a new syn- possible dominant form 105 drome: correspondence 69 Muscular dystrophy mild idiopathic, recurrence risks 260 benign, risk calculation, families with consanguinity Mentally handicapped, chromosome studies, males in 299 institution 379 facioscapulohumeral see Facioscapulohumeral disease Microcephaly with ocular myopathy, autosomal recessive kinship 208 dominantly inherited syndrome, sparse hair, mental abst retardation, and seizures 597 abst Myotonic dystrophy Hirschsprung's disease, and distinctive facies: corres- families, study of seven 600 abst pondence 287 presymptomatic detection and prenatal diagnosis, by hypoplastic nose, exophthalmos, gum hyperplasia, cleft means of linked DNA markers 750 Subject index 827

Nephrotic syndrome, transient, after anaesthesia resulting in north west, knowledge, experience, and attitudes to from familial cryofibrinogen precipitating at prenatal diagnosis in 100 kindreds 592 abst 350C 631 Polydactyly, retinitis pigmentosa, and genital anomalies, Neural tube defects new syndrome 211 abst current trends in prevalence at birth, Singapore: Polymerase chain reaction correspondence 412 applications to cystic fibrosis 214 abst prevention by diet, Bedouins: correspondence 538 in diagnosis of Duchenne and Becker muscular dys- recurrence after 'partial' vitamin supplementation 326 trophy 593 abst Neurofibromatosis in prenatal exclusion testing for Huntington's disease type 1, physical and genetic studies 600 abst 214 abst von Recklinghausen, genetic study, south east Wales. I. Porencephalic cyst in pycnodysostosis: case report 782 Prevalence, fitness, mutation rate, and effect Prader-Willi syndrome, oculocutaneous albinism, and of parental transmission on severity 704: normal karyotype: case report 337 II Guidelines for genetic counselling 712 Prenatal Non-Hodgkin's lymphomas, cytogenetics 285 abst diagnosis of cystic fibrosis, use of DNA linkage dis- Noonan-like craniofacial features, digital anomalies, and equilibrium data 213 abst premature birth, unknown syndrome: of familial interstitial deletion of 11pl2 with pheno- dysmorphology report 470 typic effect 283 abst Noonan's syndrome, results of patient questionnaire 597 exclusion testing for Huntington's disease using poly- abst merase chain reaction 214 abst Norrie's disease, carrier detection and prenatal diagnosis Ptosis, hypertelorism, mental retardation, and iris 600 abst coloboma: a new syndrome: correspondence 69 Putative testis determining sequences share homology with Ocular myopathy with muscular dystrophy, autosomal loci on chromosome X, Y, and 9, distinguish- recessive kinship 208 abst able transcripts 593 abst Oesophageal cancer, distribution of haptoglobin pheno- Pycnodysostosis with porencephalic cyst: case report 782 types 172 Osteogenesis imperfecta lethal: correspondence 410 Reproductive behaviour and consistent patterns of abnor- linked to COL1A2 and associated with structural defect mality in offspring of Vietnam veterans: in type I collagen molecule, clinical vari- correspondence 602 ability 358 Restriction type I, single base pair alterations as predominant endonuclease analysis of amplified fetal DNA, prenatal category of mutation: correspondence 410 diagnosis of beta-thalassaemia based on Osteoglophonic dysplasia: syndrome of the month 572 363 fragment length polymorphism, analysis of acyl-CoA dehydrogenase medium chain region 600 Pachygyria, joint contractures, and facial abnormalities, abst unknown syndrome: dysmorphology report in carrier detection and early detection and early 788 diagnosis of Wilson's disease 78 Pakistani Punjab cities, consanguinity related prenatal and familial hypercholesterolaemia in Iceland 494 postnatal mortality 267 in identification of haplotypes at human low density Partial sacral agenesis with 18p- syndrome: corres- lipoprotein receptor gene locus 255 pondence 70 Retinitis pigmentosa, genital anomalies, and polydactyly, Patent ductus arteriosus with characteristic facies, auto- new syndrome 211 abst somal dominant syndrome 597 abst Retinoblastoma locus for genetic counselling and early Perinatal necropsy ultrasound 368 diagnosis, use of molecular information Phenylketonuria 209 abst genetic analysis of different kinds in one family 598 Rhodanese isozymes with Leber's optic neuropathy, three abst subjects 113 haplotype pattern, DNA probe identification, Gypsy Ring chromosome 15 with Fryns' syndrome features: population of Wales 499 dysmorphology report 469 PI locus for Zu,,, genietic studies 744 Robertsonian translocations, two different, unusual case of Pigmentation, skin, v .h other abnormalities, 46,XY,del mosaic Down's syndrome involving: case (2)(q32.Lq33.1) 16 year old boy: case report report 198 127 Placental biopsies, transabdominal, as possible alternative to amniocentesis 284 abst Saethre-Chotzen syndrome, variant, or new cranio- Poland's syndrome and frontonasal dysplasia 598 abst synostosis syndrome, auralcephalosyn- Polycystic kidney disease, adult dactyly: case report 522 alpha thalassaemia as potential source of error in DNA Scheuermann's juvenile kyphosis, dominant inheritance: linkage studies 6 case report 400 828 Subject index

Sensenbrenner's syndrome (cranioectodermal dysplasia): t(9;16) familial, report of female with deletion of 9p and syndrome of the month 393 duplication of 16q: case report 525 Short rib syndrome without polydactyly: correspondence X;22 with features of Turner's and DiGeorge's syn- 346 dromes, child: case report 778 SHORT syndrome, further delineation and natural Transplant survival, matching HLA antigens significantly history: short report 473 increases 207 abst Silver-Russell syndrome, severe 447 Triphalangeal thumb: correspondence 477 Skin temperature patterns and X-linked hypohidrotic Trisomies ectodermal dysplasia 592 abst autosomal, prospective screening using combination of Sneezing disorder, autosomal dominant, provoked by MSAFP and age, July 1987 to June 1988 fullness of stomach: correspondence 539 598 abst Spiky hair, cleft palate, and congenital hypothyroidism, a distal, familial, X(q24.13--qter), 8 patients: case report new syndrome?: case report 49 133 Spina bifida, lumbosacral, due to failure of neural folding partial, chronoso,ne 16q secondary to maternal 9;16 or by defective canalisation 160 translocation: short report 63 Spondyloenchondrodysplasia, four patients 93 unbalanced abnormalities of short arm of chromosome Steroid sulphatase locus, physical mapping around 599 12 285 abst abst 4p, de novo partial, third case: short report 344 Stickler's syndrome: syndrome of the month 119 9, gastrointestinal abnormalities: short report 280 Supravalvular aortic stenosis, familial, genetic study 86 tRNA gene cluster (tRNAI-U, tRNAGIn, tRNALYS) to Sweat pores and X-linked hypohidrotic ectodermal 17pl2-pter, chromsomal assignment 212 dysplasia 592 abst abst Tuberous sclerosis T cell receptor beta chain polymorphisms associated with diagnostic and counselling difficulties 694 cystic fibrosis 431: 214 abst evidence for genetic heterogeneity 511 Tall stature, joint laxity, kyphoscoliosis, and hydro- genetic aspects, west Scotland 28 cephalus, a new inherited disorder of linkage analysis 593 abst connective tissue?: case report 51 with multiple markers from chromosome 9 212 abst Tetrasomy Turcot syndrome family, suggesting autosomal dominant 18p, sibs born to mother with trisomy 18p: case inheritance 592 abst report 195 Turner's syndrome unbalanced abnormalities of short arm of chromosome features in child with X;22 translocation: case report 12 285 abst 778 Thalassaemia molecular analysis of X chromosome 600 abst alpha, as potential source of error in DNA linkage use of DNA probes 594 abst studies for adult polycystic kidney disease 6 beta, prenatal diagnosis based on restriction endo- Ultrasound in perinatal necropsy 368 nuclease analysis of amplified fetal DNA Unknown syndromes 363 abnormal facies, hypothyroidism, postaxial polydactyly, prevention programme, updated results, Latium: short and severe retardation, a third patient: report 667 dysmorphology report 785 Thanatophoric dysplasia, identical twins: case report congenital heart disease, ptosis, hypodontia, and cranio- 276: correspondence 735 synostosis: dysmorphology report 664 Thumb, triphalangeal: correspondence 477 microcephaly, hypoplastic nose, exophthalmos, gum Tissue specific radiosensitivity with new chromosomal hyperplasia, cleft palate, low set ears, and instability syndrome 208 abst osteosclerosis: dysmorphology report 786 Toluene embryopathy, two new cases: case report 333 pachygyria, joint contractures, and facial abnormalities: Translocation dysmorphology report 788 balanced, investigation by flow cytometry 597 abst in sibs, microcephaly, seizures, mental retardatiQn, de novo, outcome ascertained prenatally: short congenital heart disease, and skeletal report 590 abnormalities: familial, mild clinical effects in unbalanced carriers 282 dysmorphology report 665 abst involving the short arm of an acrocentric chromosome, Valproate phenotype, fetal, recognisable by mid preg- problems in diagnosis 282 abst nancy: correspondence 348 maternal, 9;16, with partial trisomy 16q in 6 month old Van der Woude syndrome and limb defects, chance of female offspring: short report 63 recurrence: correspondence 347 (9;18) with two abnormal offspring each with different Vietnam veterans, reproductive behaviour and consistent chromosome derivatives: case report 655 patterns of abnormality in offspring: corres- duplication of distal 17q: case report 577 pondence 602 reciprocal, causing familial Wolf-Hirschhorn syndrome Vitamin supplementation, 'partial', neural tube defect 215 abst recurrence after 326 Subject index 829

Vocal cord paralysis in hereditary distal muscular atrophy X linked 105 and autosomal recessive? new approach to old problem Van Hippel-Lindau disease, clinical features and prog- 305 nosis 600 abst Charcot-Marie-Tooth disease, DNA probe (DXYSJ) Von Recklinghausen neurofibromatosis in linkage study of segregating for, Scotland genetic study, south east Wales. I Prevalence, fitness, 215 abst mutation rate, and effect of parental trans- deafness with stapes fixation and cloned DNA sequence mission on severity 704: II Guidelines for on long arm of X chromosome, linkage genetic counselling 712 between 209 abst physical and genetic studies 600 abst mental retardation, family with separate syndrome? Waardenburg's syndrome, genetic heterogeneity: corres- 373 pondence 411 non-specific, linkage analysis in large family with Werdnig-Hoffmann disease, Hungarian study 761 211 abst Williams-Beuren syndrome/infantile hypercalcaemia, with calcitonin-CGRP gene 609 Wilson's disease, DNA markers in carrier detection and Yunis-Varon syndrome, further delineation: case report early diagnosis by restriction fragment length polymorphism analysis 78 55 Winchester's syndrome: syndrome of the month 772 Wolf-Hirschhorn syndrome familial, resulting from reciprocal translocation 215 Zinc finger genes, three, localisation using Southern abst analysis of somatic cell hybrid DNA and parental origin using cytogenetics and DNA probes non-radioactive in situ hybridisation 599 597 abst abst