Journal of February 1983 Vol 20 No 1 J Med Genet: first published as on 1 February 1983. Downloaded from

Contents

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy R J M LANE, M ROBINOW, AND A D ROSES page 1

Huntington's chorea in South Wales: , fertility, and genetic fitness D A WALKER, P S HARPER, R G NEWCOMBE, AND K DAVIES page 12 Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis P A LORKIN AND H LEHMANN page 18 Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM) H T LYNCH, R M FUSARO, W A ALBANO, J PESTER, W J KIMBERLING, AND J F LYNCH page 25 The effect of the acetylator phenotype on the metabolism of sulphasalazine in man A K AZAD KHAN, M NURAZZAMAN, AND S C TRUELOVE page 30

Acetylator phenotypes in Papua New Guinea R J A PENKETH, S F A GIBNEY, G T NURSE, AND D A HOPKINSON page 37 Immunological tolerance induced by in utero injection R D BARNES, B E POTTINGER, J MARSTON, P FLECKNELL, R H T WARD, S KALTER, AND R L HEBERLING page 41 changes in Alzheimer's presenile dementia K E BUCKTON, L J WHALLEY, M LEE, AND J E CHRISTIE page 46 http://jmg.bmj.com/ Association of , , and macular dystrophy: the EEM syndrome s OHDO, K HIRAYAMA, AND T TERAWAKI page 52 Consanguineous matings in the Egyptian population M HAFEZ, H EL-TAHAN, M AWADALLA, H EL-KHAYAT, A ABDEL-GAFAR, AND M GOHONEIM page 58 Dissection of the aorta in Turner's syndrome W H PRICE AND J WILSON page 61 on September 27, 2021 by guest. Protected copyright. Case reports A new alopecia/mental retardation syndrome M BARAITSER, C 0 CARTER, AND E M BRETT page 64 A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? M BARArTSER, J BURN, AND J FIXSEN page 65 Trisomy for 8p21-*pter owing to a familial translocation E F ALLEN AND W E HODGKIN page 68 Monosomy 22 with humorai immunodeficiency: is there an immunoglobulin chain deficit? J L GARCiA MIRANDA, A OTERO GOMEZ, H VARELA ANSEDES, N RANCEL TORRES, C GONZALEZ ESPINOSA, C CORTABARRfA, AND G SANCHEZ SALGADO page 69 Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis P STRISCIUGLIO, V RAIA, A DI MEO, E RINALDI, AND G ANDRIA page 72 8p-thalassaemia in Sicily: report of a case of double heterozygosity for Ay ar-thalassaemia and AyGy8p-thalassaemia S MUSUMECI, M A ROMEO, G PIZZARELLI, G SCHILIR6 AND G RUSSO page 73 Correspondence page 76 Announcements page 80

ASTM CODEN: JMDGAE (20) 1-80 (1983) ISSN 0022-2593 British Medical Association Tavistock Square London WC1

Published by British Medical Association, Tavistock Square, London WCIH 9JR, and printed in England by The Devonshire Press Ltd., Torquay CONTENTS J Med Genet: first published as on 1 February 1983. Downloaded from

No I FEBRUARY 1983 The genetic status of mothers of isolated cases of Duchenne muscular dystrophy R J M LANE, M ROBINOW, AND AD ROSES ..I Huntington's chorea in South Wales: mutation, fertility, and genetic fitness D A WALKER, P S HARPER, R G NEWCOMBE, AND K DAVIES 1 2 Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis P A LORKIN AND H LEHMANN.. 18 Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM) H T LYNCH, R M FUSARO, W A ALBANO, J PESTER, W J KIMBERLING, AND J F LYNCH 25 The effect of the acetylator phenotype on the metabolism of sulphasalazine in man A K AZAD KHAN, M NURAZZAMAN, AND S C TRUELOVE .. 30 Acetylator phenotypes in Papua New Guinea R J A PENKETH, S F A GIBNEY, G T NURSE, AND D A HOPKINSON 37 Immunological tolerance induced by in utero injection R D BARNES, B E POTTINGER, J MARSTON, P FLECKNELL, R H T WARD, S KALTER, AND R L HEBERLING ...... 41 Chromosome changes in Alzheimer's presenile dementia K E BUCKTON, L J WHALLEY, M LEE, AND J E CHRISTIE ...... 46 Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome S OHDO, K HIRAYAMA, AND T TERAWAKI ...... 52 Consanguineous matings in the Egyptian population M HAFEZ, H EL-TAHAN, M AWADALLA, H EL-KHAYAT, A ABDEL-GAFAR, AND M GHONEIM ...... 58 Dissection of the aorta in Turner's syndrome W H PRICE AND J WILSON ...... 61 Case reports A new alopecia/mental retardation syndrome M BARAITSER, C 0 CARTER, AND E M BRETT .. 64 A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic http://jmg.bmj.com/ compound, or a distinct entity? M BARAITSER, J BURN, AND J FIXSEN ...... 65 Trisomy for 8p21-÷pter owing to a familial translocation E F ALLEN AND W E HODGKIN .. 68 Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit? J L GARCIA MIRANDA, A OTERO GOMEZ, H VARELA ANSEDES, N RANCEL TORRES, C GONZALEZ ESPINOSA, C CORTABARRIA, AND G SANCHEZ SALGADO ...... 69 Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis P STRISCIUGLIO, V RAIA, A DI MEO, E RINALDI, AND G ANDRIA ...... 72 8p-thalassaemia in Sicily: report of a case of double heterozygosity for Ay 83-thalassaemia and on September 27, 2021 by guest. Protected copyright. AyGyt8-thalassaemia S MUSUMECI, M A ROMEO, G PIZZARELLI, G SCHILIRO, AND G RUSSO .. 73 Correspondence ...... 76 Announcements ...... 80

No 2 APRIL 1983 The effect of the male contraceptive agent Gossypol on human lymphocytes in vitro: traditional chromosome breakage, micronuclei, sister chromatid exchange, and cell kinetics Y-C TSUI, M R CREASY, AND M A HULTEN ...... 81 Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q N R PRATT AND D T D BULUGAHAPITIYA ...... 86 The incidence of Down's syndrome over a 19-year period with special reference to maternal age J R OWENS, F HARRIS, S WALKER, E McALLISTER, AND L WEST...... 90 Down's syndrome in twins of unlike sex A AVNI, J AMIR, E WILUNSKY, M B M KATZNELSON, AND S H REISNER ...... 94 Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome J BURN AND N MARTIN ...... 97 Hypostatic ulcers in 47,XXY Klinefelter's syndrome M S VERP, J L SIMPSON, AND A 0 MARTIN .. 100 Racial variation of a non-fluorescent segment of the Y chromosome in East Indians R S VERMA, A HUQ, AND H DOSIK ...... 102 Partial monosomy of chromosome 10 short arms A GENUlK, U BRONNIMAN, R TOBLER, AND P AUF J Med Genet: first published as on 1 February 1983. Downloaded from DER MAUR...... 107 Ten genetic polymorphisms in bladder cancer R A CARTWRIGHT, R ADIB, I APPLEYARD, J G COXON, R W GLASHAN, B RICHARDS, M R G ROBINSON, E SUNDERLAND, AND D BARHAM-HALL .. 112 Spondyloperipheral dysplasia J VANEK ...... 117 X linked recessive inheritance of agenesis of the corpus callosum P KAPLAN ...... 122 A recessively inherited windmill-vane camptodactyly/ syndrome M BARAITSER, J BURN, AND J FIXSEN ...... 125 Recessively inherited brachydactyly type C M BARAITSER AND J BURN ...... 128 Philtrum length and intercommissural distance in newborn infants Y SIVAN, P MERLOB, AND S H REISNER .. .. 130 Case reports Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18 N C NEVIN, J NEVIN, J M DUNLOP, AND M GRAY ...... 132 Graves' disease and Down's syndrome A J McCULLOCH, F CLARK, AND N R STEELE .. .. 133 Aberrant melanoblast migration associated with trisomy 18 mosaicism J CHEMKE, S RAPPAPORT, AND R ETROG ...... 135 De novo tandem duplication 1 7pl 1--cen z DOCHERTY, M A HULTEN, AND M M HONEYMAN .. 1 38 Ring chromosome 10 and its clinical features H NAKAI, M ADACHI, N KATSUSHIMA, N YAMAZAKI,

M SAKAMOTO, AND K TADA ...... 142 Tetrasomy 18p: tentative delineation of a syndrome D A S BATISTA, A M VIANNA-MORGANTE, AND A RICHIERI-COSTA...... 144 Distal monosomy 14 not associated with ring formation S J HREIDARSSON AND J STAMBERG .. 147 Short reports A case of the G syndrome I D YOUNG ...... 150 Translocation t(l ;20)(q21 ;ql3) in an azoospermic man A ANTONELLI, A DEL MARCO, P GABELLINI,

F GIGLIANI, L MARCUCCI, AND P PETRINELLI ...... 151 http://jmg.bmj.com/ Correspondence ...... 152 Book reviews .. .. 158 Announcement...... 160

No 3 JUNE 1983

Editorial ...... 161 on September 27, 2021 by guest. Protected copyright. The cause of neural tube defects: some experiments and a hypothesis M J SELLER .. .. 164 Fragile X chromosome: clinical and cytogenetic studies on cases from seven families A McDERMOTT, R WALTERS, R T HOWELL, AND A GARDNER ...... 169 Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea

A TYLER AND P S HARPER...... 179 Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology G M B BERGER, G BROWN, H E HENDERSON, AND F BONNICI .. 189 Intrauterine death: an approach to the analysis of genetic heterogeneity E BOTTINI, L COROMALDI, E CARAPELLA, R PASCONE, M NICOTRA, I COGHI, N LUCARINI, AND F GLORIA-BOTTINI .. 196 Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36) R S YOUNG, S D SHAPIRO, K L HANSEN, L K HINE, D E RAINOSEK, AND F A GUERRA ...... 199 Heterogeneity of osteogenesis imperfecta type I C R PATERSON, S McALLION, AND R MILLER .. 203 a-thalassaemia in Apulia: biosynthetic studies G GUANTI, A LONOCE, A PIETRAPERTOSA, G POLIMENO, AND N TANNOIA ...... 206 Microcephaly and intracranial calcification in two brothers M BARAITSER, E M BRETT, AND A T PIESOWICZ ...... 210 Assessment of ear length and low set ears in newborn infants Y SIVAN, P MERLOB, AND S H REISNER 213 A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities N J Y WOODHOUSE AND N A SAKATI ...... 216 Association between phosphoglucomutase (PGM1) and group-specific component (Gc) subtypes and tuberculosis S S PAPIHA, S S AGARWAL, AND I WHfTE ...... 220 Case reports J Med Genet: first published as on 1 February 1983. Downloaded from Mid-trimester diagnosis of bladder neck obstruction by ultrasound and paracentesis J SHALEV, Z BEN-RAFAEL, B GOLDMAN, I ENGELBERG, AND S MASHIACH 223 Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour B C DEL POZO AND P R MILLARD 225 Additional manifestations of the Neu-Laxova syndrome S B TURKEL, A J EBBIN, AND J W TOWNER 227 Intestinal obstruction and cystic fibrosis: antenatal ultrasound appearance J SHALEV, R NAVON, D URBACH, S MASHIACH, AND B GOLDMAN 229 Short reports Paracentric inversions: two new familial cases, inv(7)(q22q 1) and inv(l1)(q23q1 3) E ORYE AND H VAN BEVER 231 Two chromosome fragments in a child with Down's syndrome and transient chromosome aber- rations in the mother S KNUUTILA, J LEISTI, R SALUNEN, AND L ROSSI 232 Correspondence 233 Book reviews 236 Announcements 240

No4 AUGUST1983 Editorial 241 Review article: The teaching of human genetics in schools J S FITZSIMMONS 244 Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences T O'BRIEN, P S HARPER, K E DAVIES, J M MURRAY, M SARFARAZI, AND R WILLIAMSON 249 The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy P s HARPER, T O'BRIEN, J M MURRAY, K E DAVIES, P PEARSON, AND R WILLIAMSON .. 252 Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome H M KINGSTON, N S T THOMAS, P L PEARSON, M SARFARAZI, AND P S HARPER 255http://jmg.bmj.com/ Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned com- plement 3 probe K E DAVIES, J JACKSON, R WILLIAMSON, P S HARPER, S BALL, M SARFARAZI, L MEREDITH, AND G FEY 259 The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies J R MANN, J J CORKERY, H J W FISHER, A H CAMERON, A MAYEROVA, U WOLF, A A KENNAUGH, AND V WOOLLEY 264 T SAITO 271 Evaluation of segregation ratio in Wilson's disease on September 27, 2021 by guest. Protected copyright. Thoracic-pelvic dysostosis: a 'new' autosomal dominant form A BANKIER AND D M DANKS 276 The fragile X: a scanning electron microscope study C J HARRISON, E M JACK, T D ALLEN, AND R HARRIS 280 Fragile X trait in a large kindred: transmission also through normal males B C VAN ROY, M C DE SMEDT, R A RAES, J E DUMON, AND J G LEROY 286 Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromo- somes 15 and 16 N SAADALLAH AND M HULTEN 290 Abstracts of the Joint Meeting of the Clinical Genetics Society and the Royal College of Obstetricians and Gynaecologists held at the Royal College, London, on 27 October 1982 300 Case reports Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis D C CRAWFORD, C GARRETT, M TYNAN, B G NEVILLE, AND L D ALLAN 303 Unusual ocular findings in an infant with cri-du-chat syndrome S KITSIOU-TZELI, H D DELLAGRAM- MATICAS, C B PAPAS, I D LADAS, AND C S BARTSOCAS 304 Phenazopyridine induced methaemoglobinaemia associated with decreased activity of erythrocyte cytochrome b5 reductase J S DALY, D E HULTQUIST, AND D L RUCKNAGEL.. 307 Involvement of dorsal root ganglia in Fabry's disease N GADOTH AND U SANDBANK 309 Correspondence 313 Book reviews 316 Announcements 319 No 5 OCTOBER 1983 J Med Genet: first published as on 1 February 1983. Downloaded from The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distributions D A P EVANS, D HARMER, D Y DOWNHAM, E J WHIBLEY, J R IDLE, J RITCHIE, AND R L SMITH 321 The association of the slow acetylator phenotype with bladder cancer D A P EVANS, L C EZE, AND E J WHIBLEY 330 Linkage analysis of neurofibromatosis (von Recklinghausen disease) M A SPENCE, J L BADER,

D M PARRY, L L FIELD, S J FUNDERBURK, A E RUBENSTEIN, P A GILMAN, AND R S SPARKES .. 334 Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire T J DAVID, F C McCRAE, AND J P BOUND 338 Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis H T LYNCH, R M FUSARO, W J KIMBERLING, J F LYNCH, AND B SHANNON DANES 342 The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis S VOUTSINAS AND R WYNNE-DAVIES 345 C heterochromatin variation in couples with recurrent early abortions A MAES, C STAESSEN, L HENS, E VAMOS, M KIRSCH-VOLDERS, M C LAUWERS, E DEFRISE-GUSSENHOVEN, AND C SUSANNE 350 Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? D L VILJOEN, S L SELLARS, AND P BEIGHTON 357 Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombo- cytopenia A D GRIFFITHS 361 HLA-DR2 in two sibships with insulin-dependent diabetes mellitus I DESCHAMPS, H LESTRADET, M SCHMID, AND J HORS 365 Empirical recurrence risk after unidentified multiple congenital abnormalities A CZEIZEL AND J METNEKI 367 Spontaneous and mutagen induced sister chromaiid exchange in multiple sclerosis VIJAYALAXMI, M S NEWTON, C M STEEL, H J EVANS, AND B PENTLAND.. 372 Monosomy 18p and pure trisomy 18p in a family with translocation (7;18) M HABEDANK AND G TROST-BRINKHUES 377 11 D R 0 B GEBBIE, R G PARFITT, L M COLUMBANO-GREEN, Two cases of ring chromosome ROMAIN, http://jmg.bmj.com/ R H SMYTHE, C J CHAPMAN, AND A KERR 380 Case reports A child with partial trisomy of chromosome 17 and partial monosomy of : 46,XY, der(3),t(3;l7)(p25;q23) D J SHAWE, C FEAR, AND W J APPLEYARD 383 De novo translocation heterozygote with three reciprocal translocations J L WATT AND D A COUZIN 385 A complex double translocation involving four and five breakpoints in a child with

mild mental retardation D A COUZIN, J L WATTF, AND I A AUCHTERLONIE 389 on September 27, 2021 by guest. Protected copyright. Yq deletion with short stature, abnormal male development, and schizoid character disorder G KOSZTOLANYI AND M TRIXLER.. 393 Complete trisomy 5p owing to de novo translocation t(5;22)(q11;pl1) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p2lqll) E ORYE, Y BENOIT, AND B VAN MELE 394 Tetrasomy 9p confirmed by GALT P BALESTRAZZI, G CROCI, C FRASSI, F FRANCHI, AND G GIOVANNELLI 396 Announcements 400

No 6 DECEMBER 1983 Editorial 401 Chromosomal breakage in normal and fragile X subjects using low folate culture conditions M VEKEMANS, B POPOVICH, D ROSENBLATT, AND P MONROE 404 Huntington's disease in monozygotic twins reared apart L SUDARSKY, R H MYERS, AND T M WALSHE 408 Huntington's disease and leprosy in a New Guinea Highlander E M SCRIMGEOUR 412 Agenesis of the corpus callosum in two brothers w G WILSON, J M KENNAUGH, J P KUGLER, AND J F REYNOLDS 416 Study of a form of pulverulent cataract in a large kindred M STABILE, A AMORIELLO, S CAPOBIANCO, M L CAVALIERE, N CONTE, C DE ROSA, S RUOPPO, V SORRENTINO, AND V VENTRUTO.. .. 419 J Med Genet: first published as on 1 February 1983. Downloaded from Severe cardiac anomalies in sibs with Larsen syndrome P STRISCIUGLIO, G SEBASTIO, G ANDRIA, S MAIONE, AND V RAIA 422 Phenotype-genotype correlation in haemoglobin H disease in childhood R GALANELLO, M PIRASTU, M A MELIS, E PAGLIETTI, P MOI, AND A CAO 425 The haemoglobin pattern of sickle cell and haemoglobin Cf +-thalassaemia in Liberia M WILLCOX 430 Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psycho- motor retardation: variant of the Mohr syndrome or a new syndrome? J-F MATTEI AND S AYME 433 Osteoglophonic dwarfism in two generations R I KELLEY, P F BORNS, D NICHOLS, AND E H ZACKAI 436 Hereditary costovertebral dysplasia with malignant cerebral tumour T J DAVID AND A GLASS 441 Malformations associated with congenital absence of the gall bladder S B TURKEL, V SWANSON, AND P CHANDRASOMA 445 Spatial relationship of human X and Y chromosomes at somatic metaphase D DOSIK AND R S VERMA 450 Technical note: A simple technique for obtaining prometaphase chromosomes from lymphocytes J V SHAH, R S VERMA, J RODRIGUEZ, AND H DOSIK 452 Abstracts of the meeting of the Clinical Genetics Society held on 7 and 8 April 1983 at the University ofCambridge 454 Case reports Huntington's chorea arising as a fresh mutation M BARAITSER, J BURN, AND T A FAZZONE 459 Further evidence for Xp2l location of Duchenne muscular dystrophy (DMD) locus: X;9 trans- location in a female with DMD B S EMANUEL, E H ZACKAI, AND S H TUCKER 461 Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33) S A AL-AWADI, T I FARAG, K NAGUIB, A TEEBI, A CUSCHIERI, S AL-OTHMAN, AND T S SUNDARESHAN 464 Partial trisomy 14q24--qter D R ROMAIN, L M COLUMBANO-GREEN, R H SMYTHE, R G PARFITT, O GEBBIE, C J CHAPMAN, AND M WALL 466 X chromosome replication patterns in a case of X;9 balanced translocation G FILIPPI, V PECILE, N ARCHIDIACONO, E BARAGINO, G AUBER, AND M ROCCHI 467

Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome http://jmg.bmj.com/ W G WILSON, J M KENNAUGH, J P KUGLER, AND H E WYANDT 469 De novo duplication of the 7ql 1-q22 region N B KARDON, L POLLACK, J DAVIS, A BROEKMAN, AND M KRAUSS 471 De novo interstitial direct duplication of 15q: 46,XY,dir dup(15)(pter--q24::ql4->q21.l::q24 qter) H M HERR, C I SCOTT, AND S J HORTON 473 Short reports on September 27, 2021 by guest. Protected copyright. A father and daughter with fragile X chromosome S MORIC-PETROVIC AND Z LACA. .. .. 476 Metatarsus adductus in two brothers with Aarskog syndrome D L HURST .. .. 477 Familial hypogonadism with a balanced reciprocal 1;12 translocation D J HANDELSMAN AND

A revew ...... 478 Book reviews ...... 479

IndexInde...... 481