Levels of a-fetoprotein in amnioticfluids of mice (curly-tail) with neural tube defects 513 Brock, D. J. H. and Scrimgeour, J. B. (1972). Early prenatal diag- Mancini, G., Carbonara, A. O., and Heremans, J. F. (1965). Im- nosis of anencephaly. Lancet, 2, 1252-1253. munochemical quantitation of antigens by single radial immuno- Brock, D. J. H. and Sutcliffe, R. G. (1972). Alpha-fetoprotein in diffusion. InternationalJ'ournal of Immunochemistry, 2, 235-254. the antenatal diagnosis of anencephaly and spina bifida. Lancet, 2, Seller, M. J. (1974). Alpha-fetoprotein and the prenatal diagnosis 197-199. of neural tube defects. Developmental Medicine and Child Neuro- Gitlin, D. (1975). Normal biology of alpha-fetoprotein. Annals of logy, 16, 369-371. the New York Academy of Sciences, 259, 7-16. Seller, M. J., Campbell, S., Coltart, T. M., and Singer, J. D. (1973). Gitlin, D. and Boesman, M. (1966). Serum alpha-fetoprotein, Early termination of anencephalic after detection by albumin, and gamma-G-globulin in the human conceptus. J7ournal raised alpha-fetoprotein levels. Lancet, 2, 73. of Clinical Investigation, 44, 1826-1838. Wepsic, H. T. and Sell, S. (1974). Alpha-fetoprotein: expression in Gruneberg, H. (1954). Genetical studies on the skeleton of the human disease and in rat experimental models. Progress in mouse VIII Curly-tail. Journal of , 52, 52-67. Experimental Tumor Research, 19, 297-324.

Announcement Dr Heinz Karger Prize 1976

The prize which is awarded every year in memory of Heinz Karger, the well-known Basle publisher, for an outstanding scientific work, has in 1976 been conferred in equal parts on

D. J. H. Brock (Scotland) for his paper 'Protein Measurements in the Early Prenatal Diag- nosis of Spina Bifida' and P. R. WyattID. M. Cox (Canada) for their paper 'The Utilization of Electron Microscopy in the Prenatal Diagnosis of Genetic Disease'. The Dr Heinz Karger Memorial Foundation invites the submission of papers on the follow- ing subjects: 1977: An original research paper on 'Molecular Biology of Metabolic Diseases'. 1978: An original research paper on 'Cytological and Histochemical Approach to the Diag- nosis of Tumours'.

Conditions Manuscripts shall not exceed 20 typewritten pages, including illustrations, tables, and bibliography. Manuscripts marked 'Competition' must reach the publishers, S. Karger AG, Arnold-Bocklin-Strasse 25, CH-4011 Basle (Switzerland), not later than 28 February 1977 and 1978. The manuscript must be typewritten on one side only, double-spaced, and is to be submitted in quadruplicate, and in accordance with the instructions contained in the 'Rules for the Preparation of Manuscripts'. This leaflet can be obtained free of charge from the publishers if the request is marked 'Competition'. Language: English, German, or French. Publication: The winning papers will be published in English in one of the Karger journals. The award for the prize will be SFr. 7000.00. The Council of the Foundation will judge the papers and confer the prizes. AUTHOR INDEX TO VOLUME 13

ADELSTEIN, P. and FEDRICK, J.: Pyloric stenosis in the BLUNT, S., see FENSOM, A. H. et al Oxford Record Linkage Study Area, 439 BOBROW, M., see TUNCBILEK, E. et al ADESSA, G_ M., see KUSHNICK, T. and ADESSA, G. M. BOIS, E., FEINGOLD, J., FRENAY, P., and BRIARD, M.-L.: ADINOLFI, M., BECK, S., EMBURY, S., POLANI, P. E., and Infantile cystinosis in France: genetics, SELLER, M. J.: Levels of a-fetoprotein in incidence, geographic distribution, 434 amniotic fluids of mice (curly-tail) with BOLTON, F. G., see WEATHERALL, D. J. et al neural tube defects, 5II BOOK REVIEWS: ALBERMAN, E. D., see CREASY, M. R. and ALBERMAN, BALAKRISHNAN, C., SANGHVI, L. D., and KIRK, E. D. R. L.: Genetic diversity among Australian ALFARO, S. K., D. SAAVEDRA, O., OCHOA, S., SCAGLIA, Aborigines, 1975, 413 H., PEREZ-PALACIOS, G.: Pseudoher- BERGSMA, D. editor: Genetic forms of hypogonad- maphroditism due to XY gonadal absence ism (Birth defects: original article series, syndrome: case report, 242 Vol. XI, No. 4), 1975, 335 ALLEN, F. H., see SCHMIDT, R. et al BERGSMA, D. editor: New chromosomal and mal- AMIN, R. B., see WADIA, R. S. et al formation syndromes (Birth defects: ANDERSON, J., see PIERIDES, A. M. et al original article series, Vol. XI, No. 5), ARAD, I., see ROSENMANN, A. et al 1975, 415 ARCASOY, A., see CAVDAR, A. 0. and ARCASOY, A. BERRY, C. L. editor: Human malformations. ARON, A. M., see BERATIS, N. G. et al British Medical Bulletin, 1976, 32 (1), 4I6 ARONSON, M. M., see EMANUEL, B. S. et al BORGAONKAR, D. S.: Chromosomal variation in man. ATASU, M.: Hereditary index finger polydactyly: pheno- A catalog of chromosomal variants and typic, radiological, dermatoglyphic, and anomalies, 1975,4I4 genetic findings in a large family, 469 BOYCE, A. J. editor: Chromosome variations in AYALA, A., see GUZMAN-TOLEDANO, R. et al human evolution, 1975, 4I3 BRINKHOUS, K. M. and HEMKER, H. C. editors: BACHMAN, R., see GOLBUS, M. S. et al Handbook of hemophilia, parts I and II, BAIN, A. D., see BESLEY, G. T. N. and BAIN, A. D. 1975, 4I6 BANNERMAN, R. M., see HAYATA, I. et al BUSSEY, H. J. R.: Familial polyposis coil. Family BARG, G. A., see NEu, R. L. et al. studies, histopathology, differential diag- BARNES, I. C., see PENNOCK, C. A. and BARNES, I. C. nosis, and results of treatment, 1975, 4I5 BATTEY, D. A., see BIRD, G. W. G. et al FRANeOIS, J.: Ocular manifestations of inborn BEARD, R. J., see HOWELL, R. T. et al errors of carbohydrate and lipid metabol- BECK, S., see ADINOLFI, M. et al ism, 1975, 335 BECROFT, D. M. 0. and CHAMBERS, D.: Supravalvular HARRIS, H.: Prenatal diagnosis and selective aortic stenosis-infantile hypercalcaemia , 1974, I67 syndrome: in vitro hypersensitivity to HARRIS, H.: The principles of human biochemical vitamin D2 and calcium, 223 genetics, 2nd ed., 1975, 335 BEGLEITER, M. L., KULKARNI, P., and HARRIs, D. J.: JOHN, B. and LEWIS, K. R.: Chromosome hier- Confirmation of 22 by trypsin- archy. An introduction to the biology of giemsa staining; case report, 517 the chromosomes, 1975, 414 BENSON, P. F., see FENSOM, A. H. et al MCKUSICK, V. A.: Mendelian inheritance in man: BERATIS, N. G., KAFFE, S., ARON, A. M., and HIRSCH- catalogs of autosomal dominant, autosomal HORN, K.: Alkaline phosphatase activity recessive and X-linked phenotypes, 4th in cultured skin fibroblasts from fibrodys- ed., 1975, I66 plasia ossificans progressiva, 307 MASTERS, C. F. and HOLME, R. S.: Haemoglobin, BERGREN, N. K., see MCCONNELL, T. S., et al isoenzymes and tissue differentiation, BERTHIER, C., see CARAKUSHANSKY, G. and BERTHIER, C. 1975, 252 BESLEY, G. T. N. and BAIN, A. D.: Krabbe's globoid cell MENDLEWICZ, J. editor: Genetics and psycho- leucodystrophy, I95 pharmacology (Modem problems of phar- BIRD, G. W. G., BATTEY, D. A., GREENWELL, P., MORTI- macopsychiatry), Vol. 10), 1975, 335 MER, C. W., WATKINS, W. M., and NORA, J. J. and FRASER, F. C.: Medical genetics: WINGHAM, J.: Further observations on the principles and practice, 1974, 252 Birmingham chimaera: case report, 70 RAINE, D. editor: Molecular variants in disease BIRD, T. D., CARLSON, C. B., and HALL, J. G.: Familial (Symposium organized by The Royal essential ('benign') chorea, 357 College of Pathologists, London, Febru- BLANK, C. E., see ISSA, M. et al ary 1974), I66 542 Author index BOON, A. R. and ROBERTS, D. F.: A family study of. DAGAN, J., see COHEN, M. M. et al coarctation of the aorta, 4o DANES, B. S.: The Gardner syndrome: increased tetra- BOYD, L., see JENKINS, M. B. and BoYD, L. ploidy in cultured skin fibroblast, 52 BRACKENRIDGE, C. J., see CHIU, E. and BRACKENRIDGE, DANIEL, A. and LAM-Po-TANG, P. R. L. C.: Structure C. J. and inheritance of some heterozygous BRIARD, M.-L., see Bois, E. et al. Robertsonian translocation in man, 38I BRITISH COLUMBIA UNIVERSITY FACULTY OF MEDICINE DANIELS, G. L., see DE WEERDT, C. J. et al and NATIONAL FOUNDATION-MARCH OF DAR, H. and SCHMIDT, R.: Topographic approach for DIMES I976 conference on clinical deline- analysis of palm crease variants, 310 ation of birth defects, 23-25 June 1976, see also SCHMIDT, R. et al announcement, i68 DAVID, T. J. and ILLINGWORTH, C. A.: Diaphragmatic BROOKFIELD, D. S. K. and WALKER, S.: A case of ring hernia in the south-west of England, chromosome G22: case report, 530 253 BROWN, N., see GARDNER, R. J. M. and BROWN, N. and NIXON, A.: Congenital malformations associated BROWN, S., see FAED, M. et al with anencephaly and iniencephaly, 263 BROWN, S. P., see FENSOM, A. H. et al and OSBORNE, C. M.: Scalp hair patterns in mental BUCKTON, K. E., see SILLS, J. A. et al subnormality, I23 BULLEN, M. F., see PLAYFER, J. R. et al DAVIS, J. PRYSE-, see PRYSE-DAVIS, J. BURKE, W.: Age of onset in Huntington's disease: lack of DE LA MAzA, L. and SANCHEZ, 0.: Simultaneous G and parental age effect, 462 C banding of human chromosomes: short BURTON, B. K., HAUSER, L., and NADLER, H. L.: Con- communication, 235 genital scalp defects with distal limb ano- DE MELO E FREITAS, M. J., see SETTINERI, W. M. F. et al malies. Report of a family, 466 DE NEGROTTI, T. C., see PENCHASZADEH, V. B. and DE NEGROTTI, T. C. CALI, A., see VENTRUTO, V. et al DE WEERDT, C. J., DANIELS, G. L., and TIPPETT, P.: CALISTI, L., see CAO, A. et al Linkage relations of locus for X-borne CANALES, E. S., see LEVINSON, G. et al. type of Charcot-Marie-Tooth muscular CAo, A., CIANCHETTI, C., CALISTI, L., and TANGHERONI, atrophy and that for Xg groups: W.: A family of juvenile proximal spinal short communication, 399 muscular atrophy with dominant inheri- DENTON, T. E., see NEU, R. L. et al tance, I3I DER KALOUSTIAN, V. M., see SHAmMAs, H. F. et al CARAKUSHANSKY, G. and BERTHIER, C.: The de Lange DETTER, J., see STAMATOYANNOPOULOS, G. et al syndrome in one of twins: case report, 404 DIA GIROLAMO, R., see VENTRUTO, V. et al CARLSON, C. B., see BIRD, T. D. et al DIETZ, A. A., see GARRY, P. J. et al CARTER, C. 0.: Risks of after : RUBINSTEIN, H. M. et al annotation, 35I DOHERTY, R., see WEITKAMP, L. R. et al EVANS, K. A., and TILL, K.: Spinal dysraphism: DUMONT, C. R., see FmRNHoFF, P. M. et al genetic relation to neural tube malforma- DURMUS, Z., see STEVENSON, A. C. et al tions, 343 CATANI, L. see VENTRUTO, V. et al. EDWARDS, J. H., see GOODCHILD, M. C. et al CAVDAR, A. 0. and ARCASOY, A.: Haemoglobin EMANUEL, B. S., ZACKAI, E. H., ARONSON, M. M., LeporeBOStOf0 in a Turkish family, 363 MELLMAN, W. J., and MOORHEAD, P. S.: CENTERWALL, W. R., MILLER, K. S., and REEVES, L. M.: Abnormal and recurrence Familial 'partial 9p' trisomy: six cases and of trisomy-22 syndrome, 5oI four carriers in three generations, 57 EMBURY, S., see ADINOLFI, M. et al CHAMBERS, D., see BECROFT, D. M. 0. and CHAMBERS, D. EVANS, D. A. P., see KARIM, A. K. M. B. and EVANS, D. CHARD, R., see STAMATOYANNOPOULOS, G. et al A. P. CHEN, A. T. L., see FERNHOFF, P. M. et al PLAYFER, J. R. et al CHIU, E. and BRAcKENRIDGE, C. J.: A probable case of EVANS, H. J., see SPEED, R. M. et al mutation in Huntington's disease: case EVANS, K. A., see CARTER, C. 0. et al report, 75 EzE, L. C., see PLAYFER, J. R. et al CHIYO, H-A., KUROKI, Y., MATSUI, I., NIITSU, N., and NAKAGOME, Y.: A case of partial trisomy FAED, M., ROBERTSON, J., BROWN, S., SMAIL, P. J., and 3q: case report, 525 MUCKHART, R. D.: Pure partial trisomy for CIANCHETTI, C., see CAo, A. et al long arm of chromosome 9: case report, CLARKE, G., see TUNCBILEK, E. et al 239 CLEGG, J. B., see WEATHERALL, D. J. et al FARINA, L., see VENTRUTo, V. et al CoATES, V., see VIANNA-MORGANTE, A. M. et al FEDRICK, J., see ADELSTEIN, P. and FEDRICK, J. COHEN, M. M.: Diagnostic problems in cerebral gigant- FEINGOLD, J., see BoIs, E. et al ism: correspondence, 8o FENSON, A. H., BENSON, P. F., BLUNT, S., BROWN, S. P., Syndrome designations, 266 and COLTART, T. M.: Amniotic cell ROSENMANN, A., DAGAN, J., and LEGUM, C.: Partial 4-methylumbelliferyl-a-glucosidase acti- trisomy D: a diagnostic and cytogenetic vity for prenatal diagnosis of Pompe's dilemma: case report, 535 disease: short communications, I48 COLLING, A., see PIERIDES, A. M. et al FERNHOFF, P. M., SINGH, D. N., HANSON, J., TRUSLER, COLTART, T. M., see FENSON, A. H. et al S., DUMONT, C. R., and CHEN, A. T. L.: CREASY, M. R. and ALBERMAN, E. D.: Congenital mal- Association of D/D translocations with formations ofthe central , 9 fetal wastage and , 389 CROMBIE, A. L., see PIERIDES, A. M. et al FESTA, B., see VENTRUTO, V. et al Author index 543

FIELD, E. J.: Scrapie: a review of its relation to human HAWKEY, C. J. and SMITHIES, A.: Prader-Willi syndrome disease and ageing: review article, 479 with a 15/15 translocation: case report and FILSHIE, G. M., see FITZSIMMONS, J. S. et al reviews of the literature, I52 FITZSIMMONS, J. S., FILSHIE, G. M., HILL, A. S., and HAYATA, I., OSHIMURA, M., MARINELLO, M. J., BANNER- KIME, R.: Antenatal diagnosis of tlisomy MAN, R. M., and SANDBERG, A. A.: Non- 13 with unexpected increase in alpha-feto disjunction of an unusual : protein: case report, 400 case report, 320 FORD, P. C., see GARRY, P. J. et al HERTZ, M., see GOODMAN, R. M. et al FOREMAN, R. E., see MCCONNELL, T. S. et al HILL, A. S., see FITZSIMMONS, J. S. et al FREITAS, M. J. DE MELO E, see DE MELO E FREITAS, M. J. HIRSCHHORN, K., see BERATIS, N. G. et al FRENAY, P., see BOIS, E. et al HOFFMANN, H. J., see HUNTER, A. G. W. et al FRIED, K. and MUDEL, G.: Absence of distal inter- HOLT, S. B.: Harold Cummins (1894-1976) Obituary, phalangeal creases of fingers with flexion 540 limitation, 127 HOLTI, G., see PIERIDES, A. M. et al FRIEDMAN, A., see NAVEH, Y. and FRIEDMAN, A. HORSFIELD, G. I., see ROBINSON, E. A. E. et al FURUKAWA, T. and TOYOKURA, Y.: Chronic spinal mus- HOWELL, R. T., ROBERTS, S. H., and BEARD, R. J.: Di- cular atrophy of facioscapulohumeral centric X isochromosomes in man, 496 type, 285 HOWELL, W. M., see NEu, R. L. et al HUISMAN, T. H. J., GRAVELY, M. E., and Sox, R.: A GALJAARD, H., see NIERMEIJER, M. F. et al note on the inheritance of the hereditary GARDINER, S. E., see PIERIDES, A. M. et al persistence of fetal haemoglobin and the GARDNER, L. I., see NEu, R. L. et al 8-chain variant Hb-A2'; short communica- GARDNER, R. J. M. and BROWN, N.: Lowe's syndrome: tion, 62 identification of carriers by lens examina- HUNTER, A. G. W., RUDD, N. L., and HOFFMANN, H. J.: tion, 449 Trigonocephaly and associated minor ano- GARRY, P. J., DIETZ, A. A., LUBRANO, T., FORD, P. C., malies in mother and son: case report, 77 JAMES, K., and RUBINSTEIN, H. M.: New allele at cholinesterase locus 1, 38 ILLINGWORTH, C. A., see DAVID, T. J. and ILLINGWORTH, see RUBINSTEIN, H. M. et al C. A. GERSHANIK, J. J., see JUBERG, R. C. and GERSHANIK, J. J. ISSAK M., POTTER, A. M., and BLANK, C. E.: Multiple GIBLETT, E., see STAMATOYANNOPOULOS, G. et al congenital defects associated with trisomy GILLIN, M. E. and PRYSE-DAVIS, J.: Pterygium syn- for long arm of No. 4: case report, 326 drome: case report, 249 GIROLAMA, R. Di, see Di GIROLAMO, R. JAHODOVA, M., see NIERMEIJER, M. F. et al GLENN, K. P., see GOODCHILD, M. C. et al JAMES, K., see GARRY, P. J. et al GOLBUS, M. S., BACHMAN, R., WILTSE, S., and HALL, JENKINS, D. M., see SCOTT, J. S. and JENKINS, D. M. B. D.: Tetraploidy in a liveborn infant: JENKINS, M. B. and BOYD, L.: Reciprocal translocation, case report, 329 4q-;21p+, giving rise to Down's syn- GOODCHILD, M. C., EDWARDS, J. H., GLENN, K. P., drome: case report, 323 GRINDEY, C., HARRiS, R., MACKINTOSH, JIMENEZ, M., see GuzMAN-TOLEDANO, R. et al P., and WENTZEL, J.: A search for linkage LEVINSON, G. et al in cystic fibrosis, 4I7 JOHNSTON, A. W., see SPEED, R. M. et al GOODMAN, R. M., KATZNELSON, M. B.-M., HERTZ, M., JUBERG, R. C. and GERSHANIK, J. J.: Cervical vertebral and KATZNELSON, A.: Camptodactyly, with fusion (Klippel-Feil) syndrome with con- muscular hypoplasia, skeletal dysplasia, sanguineous parents: case report, 246 and abnormal palmar creases: Tel Hasho- mer camptodactyly syndrome, I36 KAFFE, S., see BERATIS, N. G. et al GOSDEN, C. M., WRIGHT, M. O., PATERSON, W. G., and KALMUS, H. and SEEDBURGH, D.: Probable common GRANT, K. A.: Clinical details, cytogenetic origin of a hereditary fundus dystrophy studies, and cellular physiology of a 69, (Sorsby's familial pseudoinflammatory XXX , with comments on the bio- macular dystrophy) in an English and logical effect of triploidy in man, 37I Australian family, 271 GRANT, K. A., see GOSDEN, C. M. et al KALOUSTIAN, V. M. DER, see DER KALOUSTIAN, V. M. GRAVELY, M. E., see HUISMAN, T. H. J. et al KARIM, A. K. M. B. and EVANS, D. A. P.: Polymorphic GREENWELL, P., see BIRD, G. W. G. et al acetylation of nitrazepam, 17 GRINDEY, C., see GOODCHILD, M. C. et al KARN, R. C., see TYE, J. G. et al GUZMAN-TOLEDANO, R., AYALA, A., ZARATE, A., and KATZNELSON, A., see GOODMAN, R. M. et al JIMENEZ, M.: Triple X female and Tur- KATZNELSON, M. B.-M., see GOODMAN, R. M. et al ner's syndrome offspring: case report, 5i6 KELLY, F., see ROBINSON, E. A. E. et al see also LEVINSON, G. et al KELLY, T. E. and TAYLOR, H. A.: Leucocyte values of c-L-iduronidase activity in mucopoly- HALL, B. D., see GOLBUS, M. S. et al saccharidase I: short communication, I49 HALL, J. G., see BIRD, T. D. et al KENYON, V. G., see PATRICK, A. D. et al HANSON, J., see FERNHOFF, P. M. et al KHERA, S. A., see WEITKAMP, L. R. et al HARRIS, D. J., see BEGLEITER, M. L. et al KIDD, K. K. and SPENCE, M. A.: Genetic analyses of HARRIS, R., see GOODCHILD, M. C. et al pyloric stenosis suggesting a specific HASHOLT, L.: Behaviour of cell cultures from human maternal effect, 290 , 34 KIME, R., see FITZSIMMONS, J. S. et al HAUSER, L., see BURTON, B. K. et al KLEIJER, W. J., see NIERMEIJER, M. F. et al 544 Author index KLEPPER, C. TICHELAAR-, see TICHELAR-KLEPPER, C. NEU, R. L., ORTEGA, C. C., BARG, G. A., PINTO, JR. W., KuLKARNiu, P., see BEGLEITER, M. L. et al GARDNER, L. I., HOWELL, W. M., and KUROKI, Y., see CHIYo, H-A. et al DENTON, T. E.: Inclusion ofsatellites in an KUsHNICK, T. and ADESSA, G. M.: Partial with 18/21 translocation chromosome shown by resemblance to Cofin-Siris syndrome: ammoniacal-silver staining (sat-banding) case report, 237 in case of partial trisomy 18: case report, 520 LAM-PO-TANG, P. R. L. C., see DANIEL, A. and LAM-Po- STOCKMAN, J. A., SPITZER, R. E., and ToMAR, R. H.: TANG, P. R. L. C. 46,XY/46,XY,21q- mosaicism in an LAZJUK, G. I., LURIE, I. W., and infant with neutropenia and properdin NEDZVED, M. K.: deficiency: case report, 332 Further studies on the genetic hetero- NIERMEIJER, geneity of cebocephaly, 3I4 M. F., SACHS, E. S., JAHODOvA, M., LEGUM, C., see COHEN, M. M. et al TICHELAAR-KLEPPER, C., KLEIJER, W. J., LEPPARD, B. and and GALJAARD, H.: Prenatal diagnosis of THOMSON, H. R.: Gardner's syndrome genetic disorders, I82 and steatocystoma multiplex: case report, 407 NIITSU, N., see CHIYO, H-A. et al LEVINSON, G., ZARATE, A., GUZMAN-TOLEDANO, R., NISS, R. and PASSARGE, E.: restricted to cul- CANALES, E. S., and JIMENEz, M.: An XX tured fibroblasts, 229 female NITOWSKY, H. M., see SCHMIDT, R. et al with sexual infantilism, absent SCHOENEMAN, K. and NITOWSKY, gonads, and lack of Mullerian ducts: case report, 68 H. M. see NIXON, A., see DAVID, T. J. and NIXON, A. LUBRANO, T., GARRY, P. J. et al NORTH, D., see ROBINSON, E. A. E. et al RUBINSTEIN, H. M. et al NOZAKI, M. J., see VIANNA-MORGANTE, A. M. et al LURIE, I. W., see LAzJUK, G. I. et al NUTE, P. E., see STAMATOYANNOPOULOS, G. et al MCCONNELL, T. S., FOREMAN, R. E., and BERGREN, N. OCHOA, S., see ALFARO, S. K. et al K.: Chromosome abnormalities in South- ORNOY, A., see PERLMAN, M. et al west American Indian patients: corres- ORTEGA, C. C., see NEU, R. L. et al pondence, I64 VIANNA-MORGANTE, A. M. et al MACDONALD, J. L., ROBERTS, D. F., SHAw, D. A., and OSBORNE, C. M., see DAVID, T. J. and OSBORNE, C. M. SAUNDERS, M: Blood groups and other OSHIMURA, M., see HAYATA, I. et al polymorphisms in multiple sclerosis, 30 OTTO, P. A., see ZATZ, M. et al MCFARLANE, A. and SCOTT, J. S.: Pre-/ eclampsia in twin , 208 PALACIOS, G. PEREZ-, see PEREZ-PALACIOS, G. MCKERAN, R. 0. and WATTS, R. W. E.: Use of PASSARGE, E., see NISS, R. and PASSARGE, E. phytohaemagglutinin stimulated lympho- PATERSON, W. G., see GOSDEN, C. M. et al cytes to study effects of hypoxanthine- PATRICK, A. D., WILLCOX, P., STEPHENS, R., and guanine phosphoribosyltransferase KENYON, V. G.: Prenatal diagnosis of (HGPRT) deficiency on polynucleotide Wolman's disease, 49 and protein synthesis in the Lesch-Nyhan PEARCE, W. G. and SANGER, R.: X mapping in man: syndrome, 9I evidence against direct measurable link- MACKINTOSH, P., see GOODCHILD, M. C. et al age between ocular albinism and deutan MANKINEN, C. B. and SEARS, J. W.: Trisomy 13 in a colour blindness: short communication, female over 5 years of age: case report, 157 3I9 MARINELLO, M. J., see HAYATA, I. et al PENCHASZADEH, V. B. and DE NEGROTTI, T. C.: Ectro- MARSH, G. W., see WEATHERALL, D. J. et al dactyly-ectodermal dysplasia-clefting MATSUI, I., see CHIyo, H-A. et al (EEC) syndrome: dominant inheritance MAzA, L. DE LA, see DE LA MAZA, L. and variable expression, 28i MELLMAN, W. J., see EMANUEL, B. S. et al PENHA-SERRANO, C., see ZATZ, M. et al MERRITT, A. D., see TYE, J. G. et al PENNOCK, C. A. and BARNES, I. C.: The mucopoly- MILLER, R. S., see CENTERWALL, W. R. et al saccharidoses, I69 MILNER, P. F., see WEATHERALL, D. J. et al PtREZ-PALACIOS, G., see ALFARO, S. K. et al MooRHEAD, P. S., see EMANUEL, B. S. et al PERLMAN, M., WILLIAMS, J., and ORNOY, A.: Familial MORGANTE, A. M. VIANNA-, see VIANNA-MORGANTE, ureteric bud anomalies: case report, i6i A. M. PIERIDES, A. M., HOLTI, G., CROMBIE, A. L., ROBERTS, MORTIMER, C. W., see BIRD, G. W. G. et al D. F., GARDINER, S. E., COLLING, A., and MORTON, N. E.: Genetic markers in atherosclerosis: a ANDERSON, J.: Study on a family with review, 8I Anderson-Fabry's disease and associated MUCKHART, R. D., see FAED, M. et al familial spastic paraplegia, 455 MUNDEL, G., see FRIED, K. and MUNDEL, G. PINTO, JR. W., see NEU, R. L. et al PLAYFER, J. R., EzE, L. C., BULLEN, M. F., and EVANS, D. A. P.: Genetic polymorphism and NADLER, H. L., see BURTON, B. K. et al interethnic variability of plasma paroxo- NAKAGOME, Y., see CHIYO, H-A. et al nase activity, 337 NAVEH, Y. and FRIEDMAN, A.: Pfeiffer syndrome: report POLANI, P. E., see ADINOLFI, M. et al of a family and review ofthe literature, 277 POrrER, A. M., see ISSA, M. et al NEDZVEC, M. K., see LAZJUK, G. I. et al PRICE EVANS, D. A., see EVANS, D. A. NEGROTTI, T. C. DE, see DE NEGROTTI, T. C. PRYSE-DAVIS, J., see GILLIN, M. E. and PRYSE-DAVIS, J. Author index 545

RAEBURN, J. A., see SILLS, J. A. et al SILLS, J. A., BUCKTON, K. E., and RAEBURN, J. A.: Severe RAO, B. S. S. R. and NARAYANAN, H. S.: Consanguinity mental retardation in a boy with partial and familial mental retardation, 27 trisomy lOq and partial 2q, 507 REEVES, L. M., see CENTERWALL, W. R. et al SIMCHA, A., see ROSENMANN, A. et al RICCIARDI, I., see VENTRUTO, V. et al SINGH, D. N., see FERNHOFF, P. M. et al ROBERTS, D. F., see BOON, A. R. and ROBERTS, D. F. SMAIL, P. J., see FAED, M. et al MACDONALD, J. L. et al SMITH, D. W.: Progeria in twins: correspondence, I64 PIERIDES, A. M. et al SMITHIES, A., see HAWKEY, C. J. and SMITHIES, A. ROBERTS, S. H., see HOWELL, R. T. et al SOBEL, E. H., see SCHMIDT, R. et al ROBERTSON, J., see FAED, M. et al Sox, R., see HUISMAN, T. H. J. et al ROBINSON, E. A. E., NORTH, D., HORSFIELD, G. I., and SPEED, R. M., JOHNSTON, A. W., and EVANS, H. J.: KELLY, F.: A case of twin chimerism: case Chromosome survey of the total popula- report, 528 tion of mentally subnormal in North-East ROMANO, A., see VENTRUTO, V. et al of Scotland, 295 ROSENMANN, A., ARAD, I., SIMCHA, A., and SCHAAP, T.: SPENCE, M. A., see KIDD, K. K. and SPENCE, M. A. Familial Ebstein's anomaly: case report, SRIDHARA RAMA RAo, B. S., see RAO, B. S. S. R. 532 STAMATOYANNOPOULOS, G., NUTE, P. E., GIBLETT, E., see also COHEN, M. M. et al DETTER, J., and CHARD, R.: Haemoglobin RUBINSTEIN, H. M., DIETZ, A. A., LUBRANO, T., and M Hyde Park occurring as a fresh muta- GARRY, P. J.: E1J, a quantitative variant at tion: diagnostic, structural, and genetic cholinesterase locus 1: immunological considerations, 142 evidence, 43 STEPHENS, R., see PATRICK, A. D. et al see also GARRY, P. J. et al STEVENSON, A. C., SAY, B., USTAOGLU, S., and DURMUS, RUDD, N. L., see HUNTER, A. G. W. et al Z.: Aspects of pre-eclamptic toxaemia of pregnancy, consanguinity, and twinning SAAVEDRA, D., see ALFARO, S. K. et al in Ankara, I SACHS, E. S., see NIERMEIJER, M. F. et al STEVENSON, R. E. and SCOTT, C. I.: Discordance for SALZANO, F. M., see SETTINERI, W. M. F. et al Cornelia de Lange syndrome in twins: SANCHEZ, 0., see DE LA MAZA, L. and SANCHEZ, 0. case report, 402 SANDBERG, A. A., see HAYATA, I. et al STOCKMAN, J. A., see NEU, R. L. et al SANGER, R., see PEARCE, W. G. and SANGER, R. SPITZER, R. E., see NEU, R. L. et al SARDESAI, H. V., see WADIA, R. S. et al H. et al see MACDONALD, J. L. et al TABBARA, K. F., see SHAMMAS, F. SAUNDERS, M., TANGHERONI, W. A., see CAO, A. et al SAVAGE, J. R. K.: Classification and relationships of in- TAYLOR, H. A., see KELLY, T. E. and TAYLOR, H. A. duced chromosomal structural changes: TAYSI, K., see TUNCBILEK, E. et al annotation, I03 B. and H. R. SAY, B., see STEVENSON, A. C. et al THOMPSON, H. R., see LEPPARD, THOMPSON, see M. F. et al SAYRE, J. W., see WEITKAMP, L. R. et al TICHELAAR-KLEPPER, C., NIERMEIJER, SCHMIDT, R., SOBEL, E. H., NITOWSKY, H. M., DAR, H., TILL, K., see CARTER, C. 0. et al and ALLEN, F. H.: Monozygotic twins TIPPETT, P., see DE WEERDT, C. J. et al discordant for sex; case report, 64 TOKOYURA, Y., see FURURAWA, T. and TOKOYURA, Y. see R. see ALFARO, S. K. et al TOLEDANO, R. GuzMAN-, GUZMAN-TOLEDANO, SCAGLIA, H., TOMAR, R. H., see NEU, R. L. et al SCHAAP, T., see ROSENMANN, A. et al 8o SCHMIDT, R., see DAR, H. and SCHMIDT, R. TOwNES, P. L.: Cerebral gigantism: correspondence, SCHOENEMAN, M. and NITOWSKY, H. M.: Renal function TRUSLER, S., see FERNHOFF, P. M. et al studies in an infant with 4p(-) syndrome: TUNCBILEK, E., BOBROW, M., CLARKE, G., and TAYSI, K.: A giant short arm of no. 21 chromo- case report, 522 of translocation SCHWARTZ, R. H., see WEITKAMP, L. R. et al some in mother 21/21 I SCOTT, C. I., see STEVENSON, R. E. and SCOTT, C. I. mongol: case report, 41 SCOTT, J. S. and JENKINS, D. M.: Immunogenetic factors TYE, J. G., KARN, R. C., and MERRITT, A. D.: Dif- in aetiology of pre-eclampsia/eclampsia ferential expression of salivary (Amy.) and (gestosis): review article, 200 pancreatic (Amy2) human amylase loci in see also MCFARLANE, A. and SCOTT, J. S. prenatal and postnatal development, 96 SEARS, J. W., see MANKINEN, C. B. and SEARS, J. W. USTAOGLU, S., see STEVENSON, A. C. et al SEBASTIO, G., see VENTRUTO, V. et al SEBASTIO, L., see VENTRuro, V. et al VENTRUTO, V., CALI, A., FARINA, L., FESTA, B., RICCI- SEEDBURGH, D., see KALMUS, H. and SEEDBURGH, D. ARDI, I., and SEBASTIO, L.: A case of SELLER, M. J., see ADINOLFI, M. et al hypogonadotrophic hypogonadism with SERJEANT, G. R., see WEATHERALL, D. J. et al anosmia (Kallmann's syndrome) in a male, SERRANO, C. PENHA-, see PENHA-SERRANO, C. with familial incidence of a small meta- SETTINERI, W. M. F., SALZANO, F. M., and DE MELO E centric chromosome (40,XY,mat? +): case FREITAS, M. J.: X-linked anhidrotic ecto- report, 71 dermal dysplasia with some unusual DI GIROLAMO, R., FESTA, B., ROMANO, A., SEBASTIO, features, 2I2 G., and SEBASTIo, L.: Family study of SHAMMAS, H. F., TABBARA, K. F., and DER KALOUSTIAN, inherited syndrome with multiple con- V. M.: Atvpical serum cholinesterase in a genital deformities: symphalangism, car- family with congenital distichiasis: short pal and tarsal fusion, brachydactyly, communication, 514 craniosynostosis, strabismus, hip osteo- SHAW, D. A., see MACDONALD, J. L. et al chondritis, 394 546 Author index FESTA, B., SEBASTIO, L., SEBASTIO, G., and CATANI, WEITKAMP, L. R., SAYRE, J. W., SCHWARTZ, R. H., L.: Larsen syndrome in two generations of DOHERTY, R., and KHERA, S. A.: 'Duarte an Italian family: case report, 538 variant with clinical signs' has alpha1- VIANNA-MORGANTE, A. M., NozAKI, M. J., ORTEGA, antitrypsin genotype ZZ, 46 C. C., COATES, V., and YAMAMURA, Y.: WELCH, S. G.: Haemoglobin E Saskatoon p22glu-lys in Partial monosomy and partial trisomy 18 the Shetland Island, 477 in two offspring of carrier of pericentric WENTZEL, J., see GOODCHILD, M. C. et al inversion of , 366 WILLCOX, P., see PATRICK, A. D. et al WILLIAMS, J., see PERLMAN, M. et al WADGAONKAR, S. U., see WADIA, R. S. et al WILTSE, S., see GOLBUS, M. S. et al WADIA, R. S., WADGAONKAR, S. U., AMIN, R. B., and WINGHAM, J., see BiRD, G. W. G. et al SARDESAI, H. V.: An unusual family of WRIGHT, M. 0., see GOSDEN, C. M. et al benign 'X' linked muscular dystrophy with cardiac involvement, 352 WALKER, S., see BROOKFIELD, D. S. K., and WALKER, S. YAMAMURA, Y., see VIANNA-MORGANTE, A. M. et al WATKINS, W. M., see BIRD, G. W. G. et al WATTS, R. W. E., see MCKERAN, R. 0. and WATTS, ZACKAI, E. H., see EMANUEL, B. S. et al R. W. E. ZARATE, A., see GUZMAN-TOLEDANO, R. et al WEATHERALL, D. J., CLEGG, J. B., MILNER, P. F., MARSH, ZARATE, A., see LEvINSON, G. et al G. W., BOLTON, F. G., and SERJEANT, ZATZ, M., PENHA-SERRANO, C., and OTTO, P. A.: G. R.: Linkage relationships between ,- X-linked recessive type of pure spastic and 8-structural loci and African forms of paraplegia in a large pedigree: absence of Pi thalassaemia, 20 detectable linkage with Xg, 2I7 SUBJECT INDEX TO VOLUME 13

Abortions, spontaneous, and congenital malformations of Brachydactyly, symphalangism, carpal and tarsal fusion, CNS, 9 craniosynostosis, strabismus and hip Acetylation, polymorphic, of nitrazepam, I7 osteochondritis: inherited syndrome, 394 Ageing and human disease, relation to scrapie of sheep: review article, 479 Camptodactyly syndrome, Tel Hashomer, see Tel Albinism, colour, and deutan colour blindness, evidence Hashomer camptodactyly syndrome against direct measurable linkage: short Carpal and tarsal fusion, symphalangism, brachydactyly, communication, 3I9 craniosynostosis, strabismus, and hip Alkaline phosphatase activity in cultured skin fibroblasts osteochondritis: inherited syndrome, 394 from fibrodysplasia ossificans progessiva, Cebocephaly, genetic heterogeneity, further studies, 307 314 Allele, E1J, at cholinesterase locus 1, 38; quantitative Cell cultures, from human amniotic fluid, behaviour, variant, immunological evidence, 43 34 Alpha-feto protein, increased, with antenatal diagnosis of Central nervous system, congenital malformations, in trisomy 13: case report, 400 spontaneous , 9 levels in amniotic fluids of mice with neural tube Cerebral gigantism: correspondence, 8o defects, 5II Cervical vertebral fusion (Klippel-Feil) syndrome with Amniocentesis, diagnosis of trisomy 13 with increase of consanguineous parents: case report, 246 alpha-feto protein: case report, 400 Charcot-Marie-Tooth muscular atrophy, linkage rela- prenatal diagnosis of genetic disorders, I82 tions of locus for X-borne type, and that risks of miscarriage after: annotation, 35I for Xg blood groups: short communica- Amniotic cell 4-methylumbelliferyl-a-glucosidase acti- tion, 399 vity for prenatal diagnosis of Pompe's Chimera, Birmingham, further observations: case report disease: short communication, I48 70 Amniotic fluid, human, behaviour of cell cultures, 34 Cholinesterase locus i, new allele, E1j, 38; immuno- Amniotic fluid, level of alpha-fetoprotein in mice with logical evidence, 43 neural tube defects, 5II serum, atypical, in family with congenital Amylase loci, salivary and pancreatic, differential ex- distichiasis: short communication, 514 pression in prenatal and postnatal develop- Chorea, familial essential ('benign'), description of ment, 96 family, 357 Anderson-Fabry's disease, and associated familial spas- Chromosomes, abnormalities in Southwest American tic paraplegia, family study, 455 Indian patients: correspondence, I64 Anencephaly and iniencephaly, congenital malformations induced structural changes, classification and relation- associated with, 263 ships: annotation, 103 Aneuploidy and fetal wastage, association of D/D trans- survey of total population of mentally subnormal, locations with, four families, 389 north-east Scotland, 295 Anhidrotic ectodermal dysplasia, X-linked, with some tetraploidy in livebom infant: case report, 329 unusual features, 2I2 translocation, Robertsonian, heterozygous, structure ANNOTATIONS: and inheritance, in man, 38i Classification and relationships of induced chromo- triple X female, with Turner's syndrome offspring: somal structural changes, I03 case report, 516 Risks of miscarriage after amniocentesis, 351 46,XX, female with sexual infantilism, absent gonads, Antenatal diagnosis, see Amniocentesis and lack of Miullerian ducts: case report, Aorta, coarctation, family study, 420 68 Atherosclerosis, genetic markers: review article, 8i 47,XXX, non-disjunction of unusual X chromosome: case report, 320 Becker's dystrophy, see Muscular dystrophy, benign 'X' 47,XY,mat? +, familial incidence in Kallmann's linked syndrome: case report, 7I Birmingham chimaera, further observations: case report, XY gonadal absence syndrome, with pseudoherma- 70 phroditism: case report, 242 Birth defects, clinical delineation, Conference, 23-25 Group B, 4p(-) syndrome, renal function studies: June 1976, announcement, I68 case report, 522 Blood groups and other polymorphisms in multiple translocation, 4q-;21p+, giving rise to Down's sclerosis, 30 syndrome: case report, 323 Xg, and Charcot-Marie-Tooth muscular atrophy: trisomy 4, long arm, associated with multiple con- short communication, 399 genital defects: case report, 326 548 Subject index Group C and G, simultaneous banding: short com- de Lange syndrome, see Cornelia de Lange syndrome munication, 235 Deutan colour blindness and ocular albinism, evidence trisomy 8 restricted to cultured fibroblasts: case against direct measurable linkage: short report, 229 communication, 3I9 9 partial, long arm: case report, 239 Diaphragmatic hernia, South-west England, 253 'partial 9p', familial, six cases and four carriers, Dicentric X isochromosomes in man, 4 cases of Turner's three generations, 57 syndrome, 496 partial 9, with resemblance to Coffin-Siris syn- Distichiasis, congenital, atypical serum cholinesterase in: drome: case report, 237 short communication, 514 lOq, partial, and partial monosomy 2q in boy with Down's syndrome, reciprocal translocation 4q-;21p +, severe mental retardation, 507 giving rise to: case report, 323 Group D, translocation D/D, association with fetal 'Duarte variant with clinical signs' has alpha,-antitryp- wastage and aneuploidy, four families, 389 sin genotype ZZ, 46 trisomy D, partial, a diagnostic and cytogenetic Dysraphism, spinal; genetic relation to neural tube mal- dilemma: case report, 535 formations, 343 Group E, 18, pericentiic inversion in mother of two offspring with partial monosomy and E1j, new allele at cholinesterase locus 1, 38; quantitative partial trisomy 18, 366 variant, immunological evidence, 43 translocation 18/21 in a case of partial trisomy 18, Ebstein's anomaly, familial: case report, 532 shown by satellite staining technique: case Ectrodactyly-ectodermal dysplasia-clefting (EEC) syn- report, 520 drome: dominant inheritance and variable Group G, and group C, simultaneous banding: short expression, 28I communication, 235 Enzyme studies in Krabbe's globoid cell leucodystrophy, 21, short arm, very long, in mother of 21/21 trans- '95 location mongol: case report, 4I I Fetal wastage and aneuploidy, association of D/D trans- 22, and recurrence of trisomy-22 syndrome, 50I locations with, four families, 389 ring G22; case report, 530 Fibroblasts, cultured, alkaline phosphatase activity, in translocation 21/21 mongol, with giant short arm of fibrodysplasia ossificans progressiva, 307 in mother: case report, 411 trisomy 8 restricted to, 229 , confirmation by trypsin-giemsa stain- skin, increased tetraploidy in cultures, the Gardner ing: case report, 5I7 syndrome, 52 Cleft lip and palate, ectrodactyly-ectodermal dysplasia Fibrodysplasia ossificans progressiva, alkaline phospha- clefting (EEC syndrome): dominant in- tase activity in cultured skin fibroblasts, heritance and variable expression, 28I 307 Coarctation of the aorta, family study, 420 Finger(s), absence of distal interphalangeal creases with Coffin-Siris syndrome, partial trisomy 9 resembling: flexion limitation, I27 case report, 237 index, polydactyly, hereditary: phenotypic, radio- Colour blindness, deutan, and ocular albinism, evidence logical, dermatoglyphic, and genetic find- against direct measurable linkage between: ings in large family, 469 short communication, 3I9 Fundus dystrophy, hereditary (Sorsby's familial pseudo- Congenital deformities, multiple, inherited syndrome- inflammatory macular dystrophy) probable symphalangism, carpal and tarsal fusion, common origin in an English and Aus- brachydactyly, craniosynostosis, strabis- tralian family, 27I mus hip osteochondritis, 394 Consanguinity, and familial mental retardation, 27 Gardner syndrome, increased tetraploidy in cultured pre-eclamptic toxaemia of pregnancy, and twinning, skin fibroblast, 52 aspects, Ankara, i and steatocystoma multiplex, two unusual genetically Cornelia de Lange syndrome, discordance for, in twins: determined conditions in same patient: case report, 402 case report, 407 in one of twins: case report, 404 Genetic disorders, prenatal diagnosis, I82 CORRESPONDENCE: Genetics, eighth Stadler Genetics Symposium, Missouri, Cerebral gigantism, 8o 9-10 April 1976, announcement, 63 Chromosome abnormalities in Southwest American Globoid cell leucodystrophy, Krabbe's, isoenzyme Indian patients, I64 studies, 195 Diagnostic problems in cerebral gigantism, 8o Gondadal absence with 46,XY chromosome, and pseudo- Progeria in twins, I64 hermaphroditism: case report, 242 Craniosynostosis, strabismus, hip osteochondritis, agenesis syndrome, in XX female with sexual infantil- brachydactyly, symphalangism and carpal ism, and lack of Miillerian ducts: case and tarsal fusion: inherited syndrome, 394 report, 68 Creases, distal interphalangeal, of fingers, absence caus- ing flexion limitation, I27 Haemoglobin, E Saskatoon p22glu-Ys in the Shetland Cummins, Harold, 1894-1976, Obituary, 540 Islands, 477 Cystic fibrosis, search for linkage, 417 fetal, and 8-chain variant Hb-A2', inheritance of Cystinosis, infantile, in France, genetics, incidence, geo- hereditary persistence: short communica- graphic distribution, 434 tion, 62 Cytogenetic registers, data, announcement, 63 LeporeBOstOn in a Turkish family, 363 International conference on standardiza- M Hyde Park occurring as a fresh mutation: diagnos- tion in human genetics, 5th, Mexico City, tic, structural, and genetic considerations, 1976, announcement, 336 142 Subject index 549 Hernia, diaphragmatic, south-west England, 253 Monosomy, partial, and partial trisomy 18 in two off- Huntington's disease, age of onset: lack of parental age spring of carrier of pericentric inversion of effect, 462 chromosome 18, 366 probable case of mutation: case report, 75 2q, partial, and partial trisomy 10q, in boy with severe Hypogonadism, hypogonadotrophic, with anosmia (Kall- mental retardation, 507 mann's syndrome) in male, with familial Mosaicism 46,XY/46,XY,21q-, with neutropenia and incidence of small metacentric chromo- properdin deficiency: case report, 332 some (47,XY,mat ? + ): case report, 71 Mucopolysaccharidoses: review article, I69 Hypohidrotic ectodermal dysplasia, X-linked, with some Mucopolysaccharidosis I, assay of a-L-iduronidase in unusual features, 2I2 peripheral leucocytes in diagnosis: short a-L-Iduronidase assay in peripheral leucocytes in communication, I49 mucopolysaccharidosis I: short com- Multiple sclerosis, blood groups and other polymorph- munication, 149 isms, 30 Muscular atrophy, Charcot-Marie-Tooth, linkage re- Index finger polydactyly, hereditary: phenotypic, radio- lations of locus for X-borne type, and that logical, dermatoglyphic, and genetic find- for Xg blood groups: short communica- ings in large family, 469 tion, 399 Infantile cystinosis, France, genetics, incidence, geo- proximal spinal, juvenile, family with dominant in- graphic distribution, 434 heritance, I3I Iniencephaly and anencephaly, congenital malformations spinal, of facioscapulohumeral type, 285 associated with, 263 Muscular dystrophy, benign 'X' linked, with cardiac in- International Advisory Committee on Cytogenetic Regi- volvement, unusual family history, 352 sters to the Standing Committee on Standardization in Human Cytogenetics, Neural tube defects, alpha-fetoprotein level in amniotic data, announcement, 63 fluid in mice, 5II International Conference on Standardization in Human genetic relation to spinal dystaphism, 343 Genetics, 5th Mexico City, 1976, an- Neutropenia and properdin deficiency with 46,XY/46, nouncement, 336 XY,21q- mosaicism: case report, 332 Isochromosomes, dicentric X in man, 4 cases of Turner's Nitrazepam, polymorphic acetylation, I7 syndrome, 496 studies in Krabbe's globoid cell leucodys- Obituary: Harold Cummins (1894-1976), 540 Isoenzyme Ocular albinism and deutan colour blindness, evidence trophy, I95 against direct measurable linkage: short Kallmann's syndrome, in male with familial incidence of communication, 3I9 small metacentric chromosome (47,XY, Oxford Record Linkage Study Area, pyloric stenosis, 439 mat? +): case report, 7I Klippel-Feil syndrome (cervical vertebral fusion) with Palm crease variants, topographic approach for analysis, consanguineous parents: case report, 246 3IO Krabbe's globoid cell Jeucodystrophy, isoenzyme Paraplegia, spastic, see Spastic paraplegia Paroxonase, plasma activity, genetic polymorphism and studies, I95 interethnic variability, 337 Larsen syndrome in two generations of an Italian family: Pfeiffer syndrome: report of a family and review of case report, 538 literature, 277 Lens examination in identification of carriers of Lowe's Phytohaemagglutinin stimulated lymphocytes, use to syndrome, 449 study effects of HGPRT deficiency on Lesche-Nyhan syndrome, use of phytohaemagglutinin polynucleotide and protein synthesis in stimulated lymphocytes to study effects of Lesch-Nyhan syndrome, 9I HGPRT deficiency on polynucleotide and Polydactyly, index finger, hereditary: phenotypic, radio- protein synthesis, 9I logical, dermatoglyphic, and genetic find- Leucocyte values of a-L-iduronidase activity in muco- ings in large family, 469 poJysaccharidosis I: short communication, Polymorphism, genetic, and interethnic variability of I49 plasma paroxonase activity, 337 Limb anomalies, with congenital scalp defects, report of a Pompe's disease, 4-methylumbelliferol-a-glucosidase for family, 466 prenatal diagnosis: short communication, Lowe's syndrome: identification of carriers by lens ex- I48 amination, 449 Prader-Willi syndrome with 15/15 translocation: case report, I52 Mental retardation, familial, and consanguinity, 27 Pre-eclampsia/eclampsia (gestosis), immunogenetic fac- severe, with partial trisomy 10q and partial mono- tors in aetiology: review article, 200 somy 2q, 507 in twin pregnancies, 208 scalp hair patterns, I23 Prenatal diagnosis of genetic disorders, I82 population, north-east Scotland, chromosome survey, Progeria in twins: correspondence, I64 295 Properdin deficiency and neutropenia with 46,XY/46, 4-Methylumbelliferol-ca-glucosidase activity for prenatal XY,21q - mosaicism: case report, 332 diagnosis of Pompe's disease: short com- Pseudohermaphroditism due to XY gonadal absence munication, I48 syndrome: case report, 242 Miscarriage, risks, after amniocentesis: annotation, 351 Pseudoinflammatory macular dystrophy, familial (here- Molecules, recombinant, impact on science and society, ditary fundus dystrophy), probable com- Symposium, Cambridge, Mass., 8 to 10 mon origin in an English and an Australian June 1976, announcement, i68 family, 27I 550 Snbject index Pterygium syndrome, three offspring one family: case D/D, association with fetal wastage and aneuploidy, report, 249 four families, 389 Pyloric stenosis, genetic analyses suggesting specific 18/21 in partial trisomy 18, shown by satellite stain- maternal effect, 290 ing technique: case report, 520 in Oxford Record Linkage Study Area., 439 21/21 mongol, with giant short arm of chromosome 21 in mother: case report, 41I Renal function studies in infant with 4p(-) syndrome: reciprocal, 4q-;21p +, giving rise to Down's syn- case report, 522 drome: case report, 323 REVIEW ARTICLES: Robertsonian, heterozygous, structure and inheri- Genetic markers in atherosclerosis: a review, 8I tance in man, 38i Immunogenetic factors in aetiology of pre-eclamp- Trigonocephaly and associated minor anomalies in sia/eclampsia (gestosis), 200 mother and son: case report, 77 The mucopolysaccharidoses, I69 Triploidy, 69,XXX, clinical details, cytogenetic studies, Scrapie: a review of its relation to human disease and cellular physiology, biological effect in and ageing, 479 man, 37I Trisomy, 3q partial, with clinical features: case report, 525 Scalp, defects, congenital, with distal limb anomalies, 4, long arm, associated with multiple congenital family report, 466 defects: case report, 326 hair patterns in mental subnormality, 123 8 restricted to cultured fibroblasts, 229 Sclerosis, multiple, see Multiple sclerosis 'partial 9p', six cases and four carriers, three genera- Scrapie, relation to human disease and ageing: review tions, 57 article, 479 9, partial, long arm: case report, 239 Shetland Islands, haemoglobin Saskatoon p22glu-.lYa in a with resemblance to Coffin-Siris syndrome: case woman, 477 report, 237 Spastic paraplegia, familial, associated with Anderson- lOq, partial, and partial monosomy 2q in a boy with Fabry's disease, family study, 455 severe mental retardation, 507 X-linked recessive type, absence of detectable link- 13, in female over 5 years of age: case report, I57 age with Xg, 217 with increase of alpha-feto protein, antenatal Spinal, dysraphism: genetic relation to neural tube mal- diagnosis: case report, 400 formations, 343 D, partial (14 or 15), a diagnostic and cytognetic muscular atrophy, chronic, of facioscapulohumeral -dilemma: case report, 535 type, report and review ofliterature, 285 18, partial, and partial monosomy in two offspring of Southwest American Indian patients with chromosome carrier of pericentric inversion of chromo- abnormalities: correspondence, I64 some 18, 366 Stadler Genetics, Symposium, eighth, Missouri, 9-10 18 with translocation 18/21, shown by satellite April 1976: announcement, 63 staining technique: case report, 520 Steatocystoma multiplex and Gardner's syndrome, two 22, confirmation by trypsin-giemsa staining: case unusual genetically determined conditions report, 5I7 in same patient: case report, 407 syndrome, recurrence, and abnormal chromosome Strabismus, craniostenosis, hip osteochondritis, brachy- 22, 50I dactyly, symphalangism, and carpal and Turner's syndrome, with dicentric X isochromosomes, 4 tarsal fusion: inherited syndrome, 394 cases, 496 Supravalvular aortic stenosis-infantile hypercalcaemia offspring from triple X female: case report, 5 i6 syndrome: in vitro hypersensitivity to Twins, chimerism, shown by cytogenetic studies, red cell vitamin D2 and calcium, 223 grouping, and white cell :HL-A typing: Symphalangism, carpal and tarsal fusion, brachydactyly, case report, 528 craniosynostosis, strabismus, and hip Cornelia de Lange syndrome in one: case report, 404 osteochondritis, inherited syndrome, 394 discordance for: case report, 402 Syndrome designations, 266 monozygotic, discordant for sex: case report, 64 pre-eclampsia/eclampsia during pregnancy, 208 Tel Hashomer camptodactyly syndrome; camptodactyly, pre-eclamptic toxaemia of pregnancy, and con- with muscular hypoplasia, skeletal dys- sanguinity, aspects, Ankara, i plasia, and abnormal palmar creases, I36 progeria: correspondence, I64 Tenth Miles International Symposium: Impact of re- combinant molecules on science and soci- Ureteric bud anomalies, familial: case report, i6I ety, Cambridge, Mass., 8 to 10 June 1976: Vitamin D2 and calcium, in vitro hypersensitivity, supra- announcement, I68 valvular aortic stenosis-infantile hyper- Teratology Society, 1976 Annual Meeting, Carmel, 20- calcaemia, 223 23 June 1976, announcement, 63 Tetraploidy, increased in cultured skin fibroblast, the Wolman's disease, prenatal diagnosis, 49 Gardner syndrome, 52 X-linked, anhidrotic ectodermal dysplasia, with some in liveborn infant: case report, 329 unusual features, 212 Thalassaemia, P, African forms, linkage relationships recessive type of pure spastic paraplegia in large between ,p- and 8-structural loci, 20 pedigree, absence of detectable linkage Toxaemia, pre-eclamptic, of pregnancy, consanguinity with Xg, 217 and twinning, aspects, Ankara, I Translocation, 15/15, in Prader-Willi syndrome: case ZZ genotype of alpha,-antitrypsin, in patient with report, 152 'Duarte variant with clinical signs', 46