Levels of a-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defectsBrock, D. J. H. and Scrimgeour, J. B. (1972). Early prenatal diag-

nosis of anencephaly. Lancet, 2, 1252-1253.Brock, D. J. H. and Sutcliffe, R. G. (1972). Alpha-fetoprotein in

the antenatal diagnosis of anencephaly and spina bifida. Lancet, 2,197-199.

Gitlin, D. (1975). Normal biology of alpha-fetoprotein. Annals ofthe New York Academy of Sciences, 259, 7-16.

Gitlin, D. and Boesman, M. (1966). Serum alpha-fetoprotein,albumin, and gamma-G-globulin in the human conceptus. J7ournalof Clinical Investigation, 44, 1826-1838.

Gruneberg, H. (1954). Genetical studies on the skeleton of themouse VIII Curly-tail. Journal of Genetics, 52, 52-67.

Mancini, G., Carbonara, A. O., and Heremans, J. F. (1965). Im-munochemical quantitation of antigens by single radial immuno-diffusion. InternationalJ'ournal of Immunochemistry, 2, 235-254.

Seller, M. J. (1974). Alpha-fetoprotein and the prenatal diagnosisof neural tube defects. Developmental Medicine and Child Neuro-logy, 16, 369-371.

Seller, M. J., Campbell, S., Coltart, T. M., and Singer, J. D. (1973).Early termination of anencephalic pregnancy after detection byraised alpha-fetoprotein levels. Lancet, 2, 73.

Wepsic, H. T. and Sell, S. (1974). Alpha-fetoprotein: expression inhuman disease and in rat experimental models. Progress inExperimental 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 Baslepublisher, for an outstanding scientific work, has in 1976 been conferred in equal parts onD. 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 Utilizationof 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'.

ConditionsManuscripts 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 1977and 1978. The manuscript must be typewritten on one side only, double-spaced, and is to besubmitted in quadruplicate, and in accordance with the instructions contained in the 'Rulesfor the Preparation of Manuscripts'. This leaflet can be obtained free of charge from thepublishers 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.

513

AUTHOR INDEX TO VOLUME 13

ADELSTEIN, P. and FEDRICK, J.: Pyloric stenosis in theOxford Record Linkage Study Area, 439

ADESSA, G_ M., see KUSHNICK, T. and ADESSA, G. M.ADINOLFI, M., BECK, S., EMBURY, S., POLANI, P. E., and

SELLER, M. J.: Levels of a-fetoprotein inamniotic fluids of mice (curly-tail) withneural tube defects, 5II

ALBERMAN, E. D., see CREASY, M. R. and ALBERMAN,E. D.

ALFARO, S. K., D. SAAVEDRA, O., OCHOA, S., SCAGLIA,H., PEREZ-PALACIOS, G.: Pseudoher-maphroditism due to XY gonadal absencesyndrome: case report, 242

ALLEN, F. H., see SCHMIDT, R. et alAMIN, R. B., see WADIA, R. S. et alANDERSON, J., see PIERIDES, A. M. et alARAD, I., see ROSENMANN, A. et alARCASOY, A., see CAVDAR, A. 0. and ARCASOY, A.ARON, A. M., see BERATIS, N. G. et alARONSON, M. M., see EMANUEL, B. S. et alATASU, M.: Hereditary index finger polydactyly: pheno-

typic, radiological, dermatoglyphic, andgenetic findings in a large family, 469

AYALA, A., see GUZMAN-TOLEDANO, R. et al

BACHMAN, R., see GOLBUS, M. S. et alBAIN, A. D., see BESLEY, G. T. N. and BAIN, A. D.BANNERMAN, R. M., see HAYATA, I. et alBARG, G. A., see NEu, R. L. et al.BARNES, I. C., see PENNOCK, C. A. and BARNES, I. C.BATTEY, D. A., see BIRD, G. W. G. et alBEARD, R. J., see HOWELL, R. T. et alBECK, S., see ADINOLFI, M. et alBECROFT, D. M. 0. and CHAMBERS, D.: Supravalvular

aortic stenosis-infantile hypercalcaemiasyndrome: in vitro hypersensitivity tovitamin D2 and calcium, 223

BEGLEITER, M. L., KULKARNI, P., and HARRIs, D. J.:Confirmation of trisomy 22 by trypsin-giemsa staining; case report, 517

BENSON, P. F., see FENSOM, A. H. et alBERATIS, N. G., KAFFE, S., ARON, A. M., and HIRSCH-

HORN, K.: Alkaline phosphatase activityin cultured skin fibroblasts from fibrodys-plasia ossificans progressiva, 307

BERGREN, N. K., see MCCONNELL, T. S., et alBERTHIER, C., see CARAKUSHANSKY, G. and BERTHIER, C.BESLEY, G. T. N. and BAIN, A. D.: Krabbe's globoid cell

leucodystrophy, I95BIRD, G. W. G., BATTEY, D. A., GREENWELL, P., MORTI-

MER, C. W., WATKINS, W. M., andWINGHAM, J.: Further observations on theBirmingham chimaera: case report, 70

BIRD, T. D., CARLSON, C. B., and HALL, J. G.: Familialessential ('benign') chorea, 357

BLANK, C. E., see ISSA, M. et al

BLUNT, S., see FENSOM, A. H. et alBOBROW, M., see TUNCBILEK, E. et alBOIS, E., FEINGOLD, J., FRENAY, P., and BRIARD, M.-L.:

Infantile cystinosis in France: genetics,incidence, geographic distribution, 434

BOLTON, F. G., see WEATHERALL, D. J. et alBOOK REVIEWS:

BALAKRISHNAN, C., SANGHVI, L. D., and KIRK,R. L.: Genetic diversity among AustralianAborigines, 1975, 413

BERGSMA, D. editor: Genetic forms of hypogonad-ism (Birth defects: original article series,Vol. XI, No. 4), 1975, 335

BERGSMA, D. editor: New chromosomal and mal-formation syndromes (Birth defects:original article series, Vol. XI, No. 5),1975, 415

BERRY, C. L. editor: Human malformations.British Medical Bulletin, 1976, 32 (1), 4I6

BORGAONKAR, D. S.: Chromosomal variation in man.A catalog of chromosomal variants andanomalies, 1975,4I4

BOYCE, A. J. editor: Chromosome variations inhuman evolution, 1975, 4I3

BRINKHOUS, K. M. and HEMKER, H. C. editors:Handbook of hemophilia, parts I and II,1975, 4I6

BUSSEY, H. J. R.: Familial polyposis coil. Familystudies, histopathology, differential diag-nosis, and results of treatment, 1975, 4I5

FRANeOIS, J.: Ocular manifestations of inbornerrors of carbohydrate and lipid metabol-ism, 1975, 335

HARRIS, H.: Prenatal diagnosis and selectiveabortion, 1974, I67

HARRIS, H.: The principles of human biochemicalgenetics, 2nd ed., 1975, 335

JOHN, B. and LEWIS, K. R.: Chromosome hier-archy. An introduction to the biology ofthe chromosomes, 1975, 414

MCKUSICK, V. A.: Mendelian inheritance in man:catalogs of autosomal dominant, autosomalrecessive and X-linked phenotypes, 4thed., 1975, I66

MASTERS, C. F. and HOLME, R. S.: Haemoglobin,isoenzymes and tissue differentiation,1975, 252

MENDLEWICZ, J. editor: Genetics and psycho-pharmacology (Modem problems of phar-macopsychiatry), Vol. 10), 1975, 335

NORA, J. J. and FRASER, F. C.: Medical genetics:principles and practice, 1974, 252

RAINE, D. editor: Molecular variants in disease(Symposium organized by The RoyalCollege of Pathologists, London, Febru-ary 1974), I66

542 Author indexBOON, A. R. and ROBERTS, D. F.: A family study of.

coarctation of the aorta, 4oBOYD, L., see JENKINS, M. B. and BoYD, L.BRACKENRIDGE, C. J., see CHIU, E. and BRACKENRIDGE,

C. J.BRIARD, M.-L., see Bois, E. et al.BRITISH COLUMBIA UNIVERSITY FACULTY OF MEDICINE

and NATIONAL FOUNDATION-MARCH OFDIMES I976 conference on clinical deline-ation of birth defects, 23-25 June 1976,announcement, i68

BROOKFIELD, D. S. K. and WALKER, S.: A case of ringchromosome G22: case report, 530

BROWN, N., see GARDNER, R. J. M. and BROWN, N.BROWN, S., see FAED, M. et alBROWN, S. P., see FENSOM, A. H. et alBUCKTON, K. E., see SILLS, J. A. et alBULLEN, M. F., see PLAYFER, J. R. et alBURKE, W.: Age of onset in Huntington's disease: lack of

parental age effect, 462BURTON, B. K., HAUSER, L., and NADLER, H. L.: Con-

genital scalp defects with distal limb ano-malies. Report of a family, 466

CALI, A., see VENTRUTO, V. et alCALISTI, L., see CAO, A. et alCANALES, E. S., see LEVINSON, G. et al.CAo, A., CIANCHETTI, C., CALISTI, L., and TANGHERONI,

W.: A family of juvenile proximal spinalmuscular atrophy with dominant inheri-tance, I3I

CARAKUSHANSKY, G. and BERTHIER, C.: The de Langesyndrome in one of twins: case report, 404

CARLSON, C. B., see BIRD, T. D. et alCARTER, C. 0.: Risks of miscarriage after amniocentesis:

annotation, 35IEVANS, K. A., and TILL, K.: Spinal dysraphism:

genetic relation to neural tube malforma-tions, 343

CATANI, L. see VENTRUTO, V. et al.CAVDAR, A. 0. and ARCASOY, A.: Haemoglobin

LeporeBOStOf0 in a Turkish family, 363CENTERWALL, W. R., MILLER, K. S., and REEVES, L. M.:

Familial 'partial 9p' trisomy: six cases andfour carriers in three generations, 57

CHAMBERS, D., see BECROFT, D. M. 0. and CHAMBERS, D.CHARD, R., see STAMATOYANNOPOULOS, G. et alCHEN, A. T. L., see FERNHOFF, P. M. et alCHIU, E. and BRAcKENRIDGE, C. J.: A probable case of

mutation in Huntington's disease: casereport, 75

CHIYO, H-A., KUROKI, Y., MATSUI, I., NIITSU, N., andNAKAGOME, Y.: A case of partial trisomy3q: case report, 525

CIANCHETTI, C., see CAo, A. et alCLARKE, G., see TUNCBILEK, E. et alCLEGG, J. B., see WEATHERALL, D. J. et alCoATES, V., see VIANNA-MORGANTE, A. M. et alCOHEN, M. M.: Diagnostic problems in cerebral gigant-

ism: correspondence, 8oSyndrome designations, 266ROSENMANN, A., DAGAN, J., and LEGUM, C.: Partial

trisomy D: a diagnostic and cytogeneticdilemma: case report, 535

COLLING, A., see PIERIDES, A. M. et alCOLTART, T. M., see FENSON, A. H. et alCREASY, M. R. and ALBERMAN, E. D.: Congenital mal-

formations ofthe central nervous system, 9CROMBIE, A. L., see PIERIDES, A. M. et al

DAGAN, J., see COHEN, M. M. et alDANES, B. S.: The Gardner syndrome: increased tetra-

ploidy in cultured skin fibroblast, 52DANIEL, A. and LAM-Po-TANG, P. R. L. C.: Structure

and inheritance of some heterozygousRobertsonian translocation in man, 38I

DANIELS, G. L., see DE WEERDT, C. J. et alDAR, H. and SCHMIDT, R.: Topographic approach for

analysis of palm crease variants, 310see also SCHMIDT, R. et al

DAVID, T. J. and ILLINGWORTH, C. A.: Diaphragmatichernia in the south-west of England,253

and NIXON, A.: Congenital malformations associatedwith anencephaly and iniencephaly, 263

and OSBORNE, C. M.: Scalp hair patterns in mentalsubnormality, I23

DAVIS, J. PRYSE-, see PRYSE-DAVIS, J.DE LA MAzA, L. and SANCHEZ, 0.: Simultaneous G and

C banding of human chromosomes: shortcommunication, 235

DE MELO E FREITAS, M. J., see SETTINERI, W. M. F. et alDE NEGROTTI, T. C., see PENCHASZADEH, V. B. and DE

NEGROTTI, T. C.DE WEERDT, C. J., DANIELS, G. L., and TIPPETT, P.:

Linkage relations of locus for X-bornetype of Charcot-Marie-Tooth muscularatrophy and that for Xg blood groups:short communication, 399

DENTON, T. E., see NEU, R. L. et alDER KALOUSTIAN, V. M., see SHAmMAs, H. F. et alDETTER, J., see STAMATOYANNOPOULOS, G. et alDIA GIROLAMO, R., see VENTRUTO, V. et alDIETZ, A. A., see GARRY, P. J. et al

RUBINSTEIN, H. M. et alDOHERTY, R., see WEITKAMP, L. R. et alDUMONT, C. R., see FmRNHoFF, P. M. et alDURMUS, Z., see STEVENSON, A. C. et al

EDWARDS, J. H., see GOODCHILD, M. C. et alEMANUEL, B. S., ZACKAI, E. H., ARONSON, M. M.,

MELLMAN, W. J., and MOORHEAD, P. S.:Abnormal chromosome 22 and recurrenceof trisomy-22 syndrome, 5oI

EMBURY, S., see ADINOLFI, M. et alEVANS, D. A. P., see KARIM, A. K. M. B. and EVANS, D.

A. P.PLAYFER, J. R. et al

EVANS, H. J., see SPEED, R. M. et alEVANS, K. A., see CARTER, C. 0. et alEzE, L. C., see PLAYFER, J. R. et al

FAED, M., ROBERTSON, J., BROWN, S., SMAIL, P. J., andMUCKHART, R. D.: Pure partial trisomy forlong arm of chromosome 9: case report,239

FARINA, L., see VENTRUTo, V. et alFEDRICK, J., see ADELSTEIN, P. and FEDRICK, J.FEINGOLD, J., see BoIs, E. et alFENSON, A. H., BENSON, P. F., BLUNT, S., BROWN, S. P.,

and COLTART, T. M.: Amniotic cell4-methylumbelliferyl-a-glucosidase acti-vity for prenatal diagnosis of Pompe'sdisease: short communications, I48

FERNHOFF, P. M., SINGH, D. N., HANSON, J., TRUSLER,S., DUMONT, C. R., and CHEN, A. T. L.:Association of D/D translocations withfetal wastage and aneuploidy, 389

FESTA, B., see VENTRUTO, V. et al

HAWKEY, C. J. and SMITHIES, A.: Prader-Willi syndromewith a 15/15 translocation: case report andreviews of the literature, I52

HAYATA, I., OSHIMURA, M., MARINELLO, M. J., BANNER-MAN, R. M., and SANDBERG, A. A.: Non-disjunction of an unusual X chromosome:case report, 320

HERTZ, M., see GOODMAN, R. M. et alHILL, A. S., see FITZSIMMONS, J. S. et alHIRSCHHORN, K., see BERATIS, N. G. et alHOFFMANN, H. J., see HUNTER, A. G. W. et alHOLT, S. B.: Harold Cummins (1894-1976) Obituary,

540HOLTI, G., see PIERIDES, A. M. et alHORSFIELD, G. I., see ROBINSON, E. A. E. et alHOWELL, R. T., ROBERTS, S. H., and BEARD, R. J.: Di-

centric X isochromosomes in man, 496HOWELL, W. M., see NEu, R. L. et alHUISMAN, T. H. J., GRAVELY, M. E., and Sox, R.: A

note on the inheritance of the hereditarypersistence of fetal haemoglobin and the8-chain variant Hb-A2'; short communica-tion, 62

HUNTER, A. G. W., RUDD, N. L., and HOFFMANN, H. J.:Trigonocephaly and associated minor ano-malies in mother and son: case report, 77

ILLINGWORTH, C. A., see DAVID, T. J. and ILLINGWORTH,C. A.

ISSAK M., POTTER, A. M., and BLANK, C. E.: Multiplecongenital defects associated with trisomyfor long arm of No. 4: case report, 326

JAHODOVA, M., see NIERMEIJER, M. F. et alJAMES, K., see GARRY, P. J. et alJENKINS, D. M., see SCOTT, J. S. and JENKINS, D. M.JENKINS, M. B. and BOYD, L.: Reciprocal translocation,

4q-;21p+, giving rise to Down's syn-drome: case report, 323

JIMENEZ, M., see GuzMAN-TOLEDANO, R. et alLEVINSON, G. et al

JOHNSTON, A. W., see SPEED, R. M. et alJUBERG, R. C. and GERSHANIK, J. J.: Cervical vertebral

fusion (Klippel-Feil) syndrome with con-sanguineous parents: case report, 246

KAFFE, S., see BERATIS, N. G. et alKALMUS, H. and SEEDBURGH, D.: Probable common

origin of a hereditary fundus dystrophy(Sorsby's familial pseudoinflammatorymacular dystrophy) in an English andAustralian family, 271

KALOUSTIAN, V. M. DER, see DER KALOUSTIAN, V. M.KARIM, A. K. M. B. and EVANS, D. A. P.: Polymorphic

acetylation of nitrazepam, 17KARN, R. C., see TYE, J. G. et alKATZNELSON, A., see GOODMAN, R. M. et alKATZNELSON, M. B.-M., see GOODMAN, R. M. et alKELLY, F., see ROBINSON, E. A. E. et alKELLY, T. E. and TAYLOR, H. A.: Leucocyte values of

c-L-iduronidase activity in mucopoly-saccharidase I: short communication, I49

KENYON, V. G., see PATRICK, A. D. et alKHERA, S. A., see WEITKAMP, L. R. et alKIDD, K. K. and SPENCE, M. A.: Genetic analyses of

pyloric stenosis suggesting a specificmaternal effect, 290

KIME, R., see FITZSIMMONS, J. S. et alKLEIJER, W. J., see NIERMEIJER, M. F. et al

FIELD, E. J.: Scrapie: a review of its relation to humandisease and ageing: review article, 479

FILSHIE, G. M., see FITZSIMMONS, J. S. et alFITZSIMMONS, J. S., FILSHIE, G. M., HILL, A. S., and

KIME, R.: Antenatal diagnosis of tlisomy13 with unexpected increase in alpha-fetoprotein: case report, 400

FORD, P. C., see GARRY, P. J. et alFOREMAN, R. E., see MCCONNELL, T. S. et alFREITAS, M. J. DE MELO E, see DE MELO E FREITAS, M. J.FRENAY, P., see BOIS, E. et alFRIED, K. and MUDEL, G.: Absence of distal inter-

phalangeal creases of fingers with flexionlimitation, 127

FRIEDMAN, A., see NAVEH, Y. and FRIEDMAN, A.FURUKAWA, T. and TOYOKURA, Y.: Chronic spinal mus-

cular atrophy of facioscapulohumeraltype, 285

GALJAARD, H., see NIERMEIJER, M. F. et alGARDINER, S. E., see PIERIDES, A. M. et alGARDNER, L. I., see NEu, R. L. et alGARDNER, R. J. M. and BROWN, N.: Lowe's syndrome:

identification of carriers by lens examina-tion, 449

GARRY, P. J., DIETZ, A. A., LUBRANO, T., FORD, P. C.,JAMES, K., and RUBINSTEIN, H. M.: Newallele at cholinesterase locus 1, 38

see RUBINSTEIN, H. M. et alGERSHANIK, J. J., see JUBERG, R. C. and GERSHANIK, J. J.GIBLETT, E., see STAMATOYANNOPOULOS, G. et alGILLIN, M. E. and PRYSE-DAVIS, J.: Pterygium syn-

drome: case report, 249GIROLAMA, R. Di, see Di GIROLAMO, R.GLENN, K. P., see GOODCHILD, M. C. et alGOLBUS, M. S., BACHMAN, R., WILTSE, S., and HALL,

B. D.: Tetraploidy in a liveborn infant:case report, 329

GOODCHILD, M. C., EDWARDS, J. H., GLENN, K. P.,GRINDEY, C., HARRiS, R., MACKINTOSH,P., and WENTZEL, J.: A search for linkagein cystic fibrosis, 4I7

GOODMAN, R. M., KATZNELSON, M. B.-M., HERTZ, M.,and KATZNELSON, A.: Camptodactyly, withmuscular hypoplasia, skeletal dysplasia,and abnormal palmar creases: Tel Hasho-mer camptodactyly syndrome, I36

GOSDEN, C. M., WRIGHT, M. O., PATERSON, W. G., andGRANT, K. A.: Clinical details, cytogeneticstudies, and cellular physiology of a 69,XXX fetus, with comments on the bio-logical effect of triploidy in man, 37I

GRANT, K. A., see GOSDEN, C. M. et alGRAVELY, M. E., see HUISMAN, T. H. J. et alGREENWELL, P., see BIRD, G. W. G. et alGRINDEY, C., see GOODCHILD, M. C. et alGUZMAN-TOLEDANO, R., AYALA, A., ZARATE, A., and

JIMENEZ, M.: Triple X female and Tur-ner's syndrome offspring: case report, 5i6

see also LEVINSON, G. et al

HALL, B. D., see GOLBUS, M. S. et alHALL, J. G., see BIRD, T. D. et alHANSON, J., see FERNHOFF, P. M. et alHARRIS, D. J., see BEGLEITER, M. L. et alHARRIS, R., see GOODCHILD, M. C. et alHASHOLT, L.: Behaviour of cell cultures from human

amniotic fluid, 34HAUSER, L., see BURTON, B. K. et al

Author index 543

KLEPPER, C. TICHELAAR-, see TICHELAR-KLEPPER, C.KuLKARNiu, P., see BEGLEITER, M. L. et alKUROKI, Y., see CHIYo, H-A. et alKUsHNICK, T. and ADESSA, G. M.: Partial trisomy 9 with

resemblance to Cofin-Siris syndrome:case report, 237

LAM-PO-TANG, P. R. L. C., see DANIEL, A. and LAM-Po-TANG, P. R. L. C.

LAZJUK, G. I., LURIE, I. W., and NEDZVED, M. K.:Further studies on the genetic hetero-geneity of cebocephaly, 3I4

LEGUM, C., see COHEN, M. M. et alLEPPARD, B. and THOMSON, H. R.: Gardner's syndrome

and steatocystoma multiplex: case report,407

LEVINSON, G., ZARATE, A., GUZMAN-TOLEDANO, R.,CANALES, E. S., and JIMENEz, M.: An XXfemale with sexual infantilism, absentgonads, and lack of Mullerian ducts: casereport, 68

LUBRANO, T., see GARRY, P. J. et alRUBINSTEIN, H. M. et al

LURIE, I. W., see LAzJUK, G. I. et al

MCCONNELL, T. S., FOREMAN, R. E., and BERGREN, N.K.: Chromosome abnormalities in South-west American Indian patients: corres-pondence, I64

MACDONALD, J. L., ROBERTS, D. F., SHAw, D. A., andSAUNDERS, M: Blood groups and otherpolymorphisms in multiple sclerosis, 30

MCFARLANE, A. and SCOTT, J. S.: Pre-eclampsia/eclampsia in twin pregnancies, 208

MCKERAN, R. 0. and WATTS, R. W. E.: Use ofphytohaemagglutinin stimulated lympho-cytes to study effects of hypoxanthine-guanine phosphoribosyltransferase(HGPRT) deficiency on polynucleotideand protein synthesis in the Lesch-Nyhansyndrome, 9I

MACKINTOSH, P., see GOODCHILD, M. C. et alMANKINEN, C. B. and SEARS, J. W.: Trisomy 13 in a

female over 5 years of age: case report, 157MARINELLO, M. J., see HAYATA, I. et alMARSH, G. W., see WEATHERALL, D. J. et alMATSUI, I., see CHIyo, H-A. et alMAzA, L. DE LA, see DE LA MAZA, L.MELLMAN, W. J., see EMANUEL, B. S. et alMERRITT, A. D., see TYE, J. G. et alMILLER, R. S., see CENTERWALL, W. R. et alMILNER, P. F., see WEATHERALL, D. J. et alMooRHEAD, P. S., see EMANUEL, B. S. et alMORGANTE, A. M. VIANNA-, see VIANNA-MORGANTE,

A. M.MORTIMER, C. W., see BIRD, G. W. G. et alMORTON, N. E.: Genetic markers in atherosclerosis: a

review, 8IMUCKHART, R. D., see FAED, M. et alMUNDEL, G., see FRIED, K. and MUNDEL, G.

NADLER, H. L., see BURTON, B. K. et alNAKAGOME, Y., see CHIYO, H-A. et alNAVEH, Y. and FRIEDMAN, A.: Pfeiffer syndrome: report

ofa family and review ofthe literature, 277NEDZVEC, M. K., see LAZJUK, G. I. et alNEGROTTI, T. C. DE, see DE NEGROTTI, T. C.

NEU, R. L., ORTEGA, C. C., BARG, G. A., PINTO, JR. W.,GARDNER, L. I., HOWELL, W. M., andDENTON, T. E.: Inclusion of satellites in an18/21 translocation chromosome shown byammoniacal-silver staining (sat-banding)in case of partial trisomy 18: case report,520

STOCKMAN, J. A., SPITZER, R. E., and ToMAR, R. H.:46,XY/46,XY,21q- mosaicism in aninfant with neutropenia and properdindeficiency: case report, 332

NIERMEIJER, M. F., SACHS, E. S., JAHODOvA, M.,TICHELAAR-KLEPPER, C., KLEIJER, W. J.,and GALJAARD, H.: Prenatal diagnosis ofgenetic disorders, I82

NIITSU, N., see CHIYO, H-A. et alNISS, R. and PASSARGE, E.: Trisomy 8 restricted to cul-

tured fibroblasts, 229NITOWSKY, H. M., see SCHMIDT, R. et al

SCHOENEMAN, K. and NITOWSKY,H. M.

NIXON, A., see DAVID, T. J. and NIXON, A.NORTH, D., see ROBINSON, E. A. E. et alNOZAKI, M. J., see VIANNA-MORGANTE, A. M. et alNUTE, P. E., see STAMATOYANNOPOULOS, G. et al

OCHOA, S., see ALFARO, S. K. et alORNOY, A., see PERLMAN, M. et alORTEGA, C. C., see NEU, R. L. et al

VIANNA-MORGANTE, A. M. et alOSBORNE, C. M., see DAVID, T. J. and OSBORNE, C. M.OSHIMURA, M., see HAYATA, I. et alOTTO, P. A., see ZATZ, M. et al

PALACIOS, G. PEREZ-, see PEREZ-PALACIOS, G.PASSARGE, E., see NISS, R. and PASSARGE, E.PATERSON, W. G., see GOSDEN, C. M. et alPATRICK, A. D., WILLCOX, P., STEPHENS, R., and

KENYON, V. G.: Prenatal diagnosis ofWolman's disease, 49

PEARCE, W. G. and SANGER, R.: X mapping in man:evidence against direct measurable link-age between ocular albinism and deutancolour blindness: short communication,3I9

PENCHASZADEH, V. B. and DE NEGROTTI, T. C.: Ectro-dactyly-ectodermal dysplasia-clefting(EEC) syndrome: dominant inheritanceand variable expression, 28i

PENHA-SERRANO, C., see ZATZ, M. et alPENNOCK, C. A. and BARNES, I. C.: The mucopoly-

saccharidoses, I69PtREZ-PALACIOS, G., see ALFARO, S. K. et alPERLMAN, M., WILLIAMS, J., and ORNOY, A.: Familial

ureteric bud anomalies: case report, i6iPIERIDES, A. M., HOLTI, G., CROMBIE, A. L., ROBERTS,

D. F., GARDINER, S. E., COLLING, A., andANDERSON, J.: Study on a family withAnderson-Fabry's disease and associatedfamilial spastic paraplegia, 455

PINTO, JR. W., see NEU, R. L. et alPLAYFER, J. R., EzE, L. C., BULLEN, M. F., and EVANS,

D. A. P.: Genetic polymorphism andinterethnic variability of plasma paroxo-nase activity, 337

POLANI, P. E., see ADINOLFI, M. et alPOrrER, A. M., see ISSA, M. et alPRICE EVANS, D. A., see EVANS, D. A.PRYSE-DAVIS, J., see GILLIN, M. E. and PRYSE-DAVIS, J.

544 Author index

Author indexRAEBURN, J. A., see SILLS, J. A. et alRAO, B. S. S. R. and NARAYANAN, H. S.: Consanguinity

and familial mental retardation, 27REEVES, L. M., see CENTERWALL, W. R. et alRICCIARDI, I., see VENTRUTO, V. et alROBERTS, D. F., see BOON, A. R. and ROBERTS, D. F.

MACDONALD, J. L. et alPIERIDES, A. M. et al

ROBERTS, S. H., see HOWELL, R. T. et alROBERTSON, J., see FAED, M. et alROBINSON, E. A. E., NORTH, D., HORSFIELD, G. I., and

KELLY, F.: A case of twin chimerism: casereport, 528

ROMANO, A., see VENTRUTO, V. et alROSENMANN, A., ARAD, I., SIMCHA, A., and SCHAAP, T.:

Familial Ebstein's anomaly: case report,

532see also COHEN, M. M. et al

RUBINSTEIN, H. M., DIETZ, A. A., LUBRANO, T., andGARRY, P. J.: E1J, a quantitative variant atcholinesterase locus 1: immunologicalevidence, 43

see also GARRY, P. J. et alRUDD, N. L., see HUNTER, A. G. W. et al

SAAVEDRA, D., see ALFARO, S. K. et alSACHS, E. S., see NIERMEIJER, M. F. et alSALZANO, F. M., see SETTINERI, W. M. F. et alSANCHEZ, 0., see DE LA MAZA, L. and SANCHEZ, 0.SANDBERG, A. A., see HAYATA, I. et alSANGER, R., see PEARCE, W. G. and SANGER, R.SARDESAI, H. V., see WADIA, R. S. et alSAUNDERS, M., see MACDONALD, J. L. et alSAVAGE, J. R. K.: Classification and relationships of in-

duced chromosomal structural changes:annotation, I03

SAY, B., see STEVENSON, A. C. et alSAYRE, J. W., see WEITKAMP, L. R. et alSCHMIDT, R., SOBEL, E. H., NITOWSKY, H. M., DAR, H.,

and ALLEN, F. H.: Monozygotic twinsdiscordant for sex; case report, 64

SCAGLIA, H., see ALFARO, S. K. et alSCHAAP, T., see ROSENMANN, A. et alSCHMIDT, R., see DAR, H. and SCHMIDT, R.SCHOENEMAN, M. and NITOWSKY, H. M.: Renal function

studies in an infant with 4p(-) syndrome:case report, 522

SCHWARTZ, R. H., see WEITKAMP, L. R. et alSCOTT, C. I., see STEVENSON, R. E. and SCOTT, C. I.SCOTT, J. S. and JENKINS, D. M.: Immunogenetic factors

in aetiology of pre-eclampsia/eclampsia(gestosis): review article, 200

see also MCFARLANE, A. and SCOTT, J. S.SEARS, J. W., see MANKINEN, C. B. and SEARS, J. W.SEBASTIO, G., see VENTRUTO, V. et alSEBASTIO, L., see VENTRuro, V. et alSEEDBURGH, D., see KALMUS, H. and SEEDBURGH, D.SELLER, M. J., see ADINOLFI, M. et alSERJEANT, G. R., see WEATHERALL, D. J. et alSERRANO, C. PENHA-, see PENHA-SERRANO, C.SETTINERI, W. M. F., SALZANO, F. M., and DE MELO E

FREITAS, M. J.: X-linked anhidrotic ecto-dermal dysplasia with some unusualfeatures, 2I2

SHAMMAS, H. F., TABBARA, K. F., and DER KALOUSTIAN,V. M.: Atvpical serum cholinesterase in a

family with congenital distichiasis: shortcommunication, 514

SHAW, D. A., see MACDONALD, J. L. et al

545SILLS, J. A., BUCKTON, K. E., and RAEBURN, J. A.: Severe

mental retardation in a boy with partialtrisomy lOq and partial monosomy 2q, 507

SIMCHA, A., see ROSENMANN, A. et alSINGH, D. N., see FERNHOFF, P. M. et alSMAIL, P. J., see FAED, M. et alSMITH, D. W.: Progeria in twins: correspondence, I64SMITHIES, A., see HAWKEY, C. J. and SMITHIES, A.SOBEL, E. H., see SCHMIDT, R. et alSox, R., see HUISMAN, T. H. J. et alSPEED, R. M., JOHNSTON, A. W., and EVANS, H. J.:

Chromosome survey of the total popula-tion of mentally subnormal in North-Eastof Scotland, 295

SPENCE, M. A., see KIDD, K. K. and SPENCE, M. A.SRIDHARA RAMA RAo, B. S., see RAO, B. S. S. R.STAMATOYANNOPOULOS, G., NUTE, P. E., GIBLETT, E.,

DETTER, J., and CHARD, R.: HaemoglobinM Hyde Park occurring as a fresh muta-tion: diagnostic, structural, and geneticconsiderations, 142

STEPHENS, R., see PATRICK, A. D. et alSTEVENSON, A. C., SAY, B., USTAOGLU, S., and DURMUS,

Z.: Aspects of pre-eclamptic toxaemia ofpregnancy, consanguinity, and twinningin Ankara, I

STEVENSON, R. E. and SCOTT, C. I.: Discordance forCornelia de Lange syndrome in twins:case report, 402

STOCKMAN, J. A., see NEU, R. L. et alSPITZER, R. E., see NEU, R. L. et al

TABBARA, K. F., see SHAMMAS, H. F. et alTANGHERONI, W. A., see CAO, A. et alTAYLOR, H. A., see KELLY, T. E. and TAYLOR, H. A.TAYSI, K., see TUNCBILEK, E. et alTHOMPSON, H. R., see LEPPARD, B. and THOMPSON, H. R.TICHELAAR-KLEPPER, C., see NIERMEIJER, M. F. et alTILL, K., see CARTER, C. 0. et alTIPPETT, P., see DE WEERDT, C. J. et alTOKOYURA, Y., see FURURAWA, T. and TOKOYURA, Y.TOLEDANO, R. GuzMAN-, see GUZMAN-TOLEDANO, R.TOMAR, R. H., see NEU, R. L. et alTOwNES, P. L.: Cerebral gigantism: correspondence, 8oTRUSLER, S., see FERNHOFF, P. M. et alTUNCBILEK, E., BOBROW, M., CLARKE, G., and TAYSI,

K.: A giant short arm of no. 21 chromo-some in mother of 21/21 translocationmongol: case report, 41 I

TYE, J. G., KARN, R. C., and MERRITT, A. D.: Dif-ferential expression of salivary (Amy.) andpancreatic (Amy2) human amylase loci inprenatal and postnatal development, 96

USTAOGLU, S., see STEVENSON, A. C. et al

VENTRUTO, V., CALI, A., FARINA, L., FESTA, B., RICCI-ARDI, I., and SEBASTIO, L.: A case ofhypogonadotrophic hypogonadism withanosmia (Kallmann's syndrome) in a male,with familial incidence of a small meta-centric chromosome (40,XY,mat? +): casereport, 71

DI GIROLAMO, R., FESTA, B., ROMANO, A., SEBASTIO,G., and SEBASTIo, L.: Family study ofinherited syndrome with multiple con-genital deformities: symphalangism, car-pal and tarsal fusion, brachydactyly,craniosynostosis, strabismus, hip osteo-chondritis, 394

546 Author indexFESTA, B., SEBASTIO, L., SEBASTIO, G., and CATANI,

L.: Larsen syndrome in two generations ofan Italian family: case report, 538

VIANNA-MORGANTE, A. M., NozAKI, M. J., ORTEGA,C. C., COATES, V., and YAMAMURA, Y.:Partial monosomy and partial trisomy 18in two offspring of carrier of pericentricinversion of chromosome 18, 366

WADGAONKAR, S. U., see WADIA, R. S. et alWADIA, R. S., WADGAONKAR, S. U., AMIN, R. B., and

SARDESAI, H. V.: An unusual family ofbenign 'X' linked muscular dystrophy withcardiac involvement, 352

WALKER, S., see BROOKFIELD, D. S. K., and WALKER, S.WATKINS, W. M., see BIRD, G. W. G. et alWATTS, R. W. E., see MCKERAN, R. 0. and WATTS,

R. W. E.WEATHERALL, D. J., CLEGG, J. B., MILNER, P. F., MARSH,

G. W., BOLTON, F. G., and SERJEANT,G. R.: Linkage relationships between ,-and 8-structural loci and African forms ofPi thalassaemia, 20

WEITKAMP, L. R., SAYRE, J. W., SCHWARTZ, R. H.,DOHERTY, R., and KHERA, S. A.: 'Duartevariant with clinical signs' has alpha1-antitrypsin genotype ZZ, 46

WELCH, S. G.: Haemoglobin E Saskatoon p22glu-lys inthe Shetland Island, 477

WENTZEL, J., see GOODCHILD, M. C. et alWILLCOX, P., see PATRICK, A. D. et alWILLIAMS, J., see PERLMAN, M. et alWILTSE, S., see GOLBUS, M. S. et alWINGHAM, J., see BiRD, G. W. G. et alWRIGHT, M. 0., see GOSDEN, C. M. et al

YAMAMURA, Y., see VIANNA-MORGANTE, A. M. et al

ZACKAI, E. H., see EMANUEL, B. S. et alZARATE, A., see GUZMAN-TOLEDANO, R. et alZARATE, A., see LEvINSON, G. et alZATZ, M., PENHA-SERRANO, C., and OTTO, P. A.:

X-linked recessive type of pure spasticparaplegia in a large pedigree: absence ofdetectable linkage with Xg, 2I7

SUBJECT INDEX TO VOLUME 13

Abortions, spontaneous, and congenital malformations ofCNS, 9

Acetylation, polymorphic, of nitrazepam, I7Ageing and human disease, relation to scrapie of sheep:

review article, 479Albinism, colour, and deutan colour blindness, evidence

against direct measurable linkage: shortcommunication, 3I9

Alkaline phosphatase activity in cultured skin fibroblastsfrom fibrodysplasia ossificans progessiva,307

Allele, E1J, at cholinesterase locus 1, 38; quantitativevariant, immunological evidence, 43

Alpha-feto protein, increased, with antenatal diagnosis oftrisomy 13: case report, 400

levels in amniotic fluids of mice with neural tubedefects, 5II

Amniocentesis, diagnosis of trisomy 13 with increase ofalpha-feto protein: case report, 400

prenatal diagnosis of genetic disorders, I82risks of miscarriage after: annotation, 35I

Amniotic cell 4-methylumbelliferyl-a-glucosidase acti-vity for prenatal diagnosis of Pompe'sdisease: short communication, I48

Amniotic fluid, human, behaviour of cell cultures, 34Amniotic fluid, level of alpha-fetoprotein in mice with

neural tube defects, 5IIAmylase loci, salivary and pancreatic, differential ex-

pression in prenatal and postnatal develop-ment, 96

Anderson-Fabry's disease, and associated familial spas-tic paraplegia, family study, 455

Anencephaly and iniencephaly, congenital malformationsassociated with, 263

Aneuploidy and fetal wastage, association of D/D trans-locations with, four families, 389

Anhidrotic ectodermal dysplasia, X-linked, with someunusual features, 2I2

ANNOTATIONS:Classification and relationships of induced chromo-

somal structural changes, I03Risks of miscarriage after amniocentesis, 351

Antenatal diagnosis, see AmniocentesisAorta, coarctation, family study, 420Atherosclerosis, genetic markers: review article, 8i

Becker's dystrophy, see Muscular dystrophy, benign 'X'linked

Birmingham chimaera, further observations: case report,70

Birth defects, clinical delineation, Conference, 23-25June 1976, announcement, I68

Blood groups and other polymorphisms in multiplesclerosis, 30

Xg, and Charcot-Marie-Tooth muscular atrophy:short communication, 399

Brachydactyly, symphalangism, carpal and tarsal fusion,craniosynostosis, strabismus and hiposteochondritis: inherited syndrome, 394

Camptodactyly syndrome, Tel Hashomer, see TelHashomer camptodactyly syndrome

Carpal and tarsal fusion, symphalangism, brachydactyly,craniosynostosis, strabismus, and hiposteochondritis: inherited syndrome, 394

Cebocephaly, genetic heterogeneity, further studies,314

Cell cultures, from human amniotic fluid, behaviour,34

Central nervous system, congenital malformations, inspontaneous abortions, 9

Cerebral gigantism: correspondence, 8oCervical vertebral fusion (Klippel-Feil) syndrome with

consanguineous parents: case report, 246Charcot-Marie-Tooth muscular atrophy, linkage rela-

tions of locus for X-borne type, and thatfor Xg blood groups: short communica-tion, 399

Chimera, Birmingham, further observations: case report70

Cholinesterase locus i, new allele, E1j, 38; immuno-logical evidence, 43serum, atypical, in family with congenitaldistichiasis: short communication, 514

Chorea, familial essential ('benign'), description offamily, 357

Chromosomes, abnormalities in Southwest AmericanIndian patients: correspondence, I64

induced structural changes, classification and relation-ships: annotation, 103

survey of total population of mentally subnormal,north-east Scotland, 295

tetraploidy in livebom infant: case report, 329translocation, Robertsonian, heterozygous, structure

and inheritance, in man, 38itriple X female, with Turner's syndrome offspring:

case report, 51646,XX, female with sexual infantilism, absent gonads,

and lack of Miullerian ducts: case report,68

47,XXX, non-disjunction of unusual X chromosome:case report, 320

47,XY,mat? +, familial incidence in Kallmann'ssyndrome: case report, 7I

XY gonadal absence syndrome, with pseudoherma-phroditism: case report, 242

Group B, 4p(-) syndrome, renal function studies:case report, 522

translocation, 4q-;21p+, giving rise to Down'ssyndrome: case report, 323

trisomy 4, long arm, associated with multiple con-genital defects: case report, 326

Group C and G, simultaneous banding: short com-munication, 235

trisomy 8 restricted to cultured fibroblasts: casereport, 229

9 partial, long arm: case report, 239'partial 9p', familial, six cases and four carriers,

three generations, 57partial 9, with resemblance to Coffin-Siris syn-

drome: case report, 237lOq, partial, and partial monosomy 2q in boy with

severe mental retardation, 507Group D, translocation D/D, association with fetal

wastage and aneuploidy, four families, 389trisomy D, partial, a diagnostic and cytogenetic

dilemma: case report, 535Group E, 18, pericentiic inversion in mother of two

offspring with partial monosomy andpartial trisomy 18, 366

translocation 18/21 in a case of partial trisomy 18,shown by satellite staining technique: casereport, 520

Group G, and group C, simultaneous banding: shortcommunication, 235

21, short arm, very long, in mother of 21/21 trans-location mongol: case report, 4I I

22, and recurrence of trisomy-22 syndrome, 50Iring G22; case report, 530translocation 21/21 mongol, with giant short arm of

chromosome 21 in mother: case report, 411trisomy 22, confirmation by trypsin-giemsa stain-

ing: case report, 5I7Cleft lip and palate, ectrodactyly-ectodermal dysplasia

clefting (EEC syndrome): dominant in-heritance and variable expression, 28I

Coarctation of the aorta, family study, 420Coffin-Siris syndrome, partial trisomy 9 resembling:

case report, 237Colour blindness, deutan, and ocular albinism, evidence

against direct measurable linkage between:short communication, 3I9

Congenital deformities, multiple, inherited syndrome-symphalangism, carpal and tarsal fusion,brachydactyly, craniosynostosis, strabis-mus hip osteochondritis, 394

Consanguinity, and familial mental retardation, 27pre-eclamptic toxaemia of pregnancy, and twinning,

aspects, Ankara, i

Cornelia de Lange syndrome, discordance for, in twins:case report, 402

in one of twins: case report, 404CORRESPONDENCE:

Cerebral gigantism, 8oChromosome abnormalities in Southwest American

Indian patients, I64Diagnostic problems in cerebral gigantism, 8oProgeria in twins, I64

Craniosynostosis, strabismus, hip osteochondritis,brachydactyly, symphalangism and carpaland tarsal fusion: inherited syndrome, 394

Creases, distal interphalangeal, of fingers, absence caus-ing flexion limitation, I27

Cummins, Harold, 1894-1976, Obituary, 540Cystic fibrosis, search for linkage, 417Cystinosis, infantile, in France, genetics, incidence, geo-

graphic distribution, 434Cytogenetic registers, data, announcement, 63

International conference on standardiza-tion in human genetics, 5th, Mexico City,1976, announcement, 336

de Lange syndrome, see Cornelia de Lange syndromeDeutan colour blindness and ocular albinism, evidence

against direct measurable linkage: shortcommunication, 3I9

Diaphragmatic hernia, South-west England, 253Dicentric X isochromosomes in man, 4 cases of Turner's

syndrome, 496Distichiasis, congenital, atypical serum cholinesterase in:

short communication, 514Down's syndrome, reciprocal translocation 4q-;21p +,

giving rise to: case report, 323'Duarte variant with clinical signs' has alpha,-antitryp-

sin genotype ZZ, 46Dysraphism, spinal; genetic relation to neural tube mal-

formations, 343

E1j, new allele at cholinesterase locus 1, 38; quantitativevariant, immunological evidence, 43

Ebstein's anomaly, familial: case report, 532Ectrodactyly-ectodermal dysplasia-clefting (EEC) syn-

drome: dominant inheritance and variableexpression, 28I

Enzyme studies in Krabbe's globoid cell leucodystrophy,'95

Fetal wastage and aneuploidy, association of D/D trans-locations with, four families, 389

Fibroblasts, cultured, alkaline phosphatase activity, infibrodysplasia ossificans progressiva, 307

trisomy 8 restricted to, 229skin, increased tetraploidy in cultures, the Gardner

syndrome, 52Fibrodysplasia ossificans progressiva, alkaline phospha-

tase activity in cultured skin fibroblasts,307

Finger(s), absence of distal interphalangeal creases withflexion limitation, I27

index, polydactyly, hereditary: phenotypic, radio-logical, dermatoglyphic, and genetic find-ings in large family, 469

Fundus dystrophy, hereditary (Sorsby's familial pseudo-inflammatory macular dystrophy) probablecommon origin in an English and Aus-tralian family, 27I

Gardner syndrome, increased tetraploidy in culturedskin fibroblast, 52

and steatocystoma multiplex, two unusual geneticallydetermined conditions in same patient:case report, 407

Genetic disorders, prenatal diagnosis, I82Genetics, eighth Stadler Genetics Symposium, Missouri,

9-10 April 1976, announcement, 63Globoid cell leucodystrophy, Krabbe's, isoenzyme

studies, 195Gondadal absence with 46,XY chromosome, and pseudo-

hermaphroditism: case report, 242agenesis syndrome, in XX female with sexual infantil-

ism, and lack of Miillerian ducts: casereport, 68

Haemoglobin, E Saskatoon p22glu-Ys in the ShetlandIslands, 477

fetal, and 8-chain variant Hb-A2', inheritance ofhereditary persistence: short communica-tion, 62

LeporeBOstOn in a Turkish family, 363M Hyde Park occurring as a fresh mutation: diagnos-

tic, structural, and genetic considerations,142

Subject index548

Monosomy, partial, and partial trisomy 18 in two off-spring of carrier of pericentric inversion ofchromosome 18, 366

2q, partial, and partial trisomy 10q, in boy with severemental retardation, 507

Mosaicism 46,XY/46,XY,21q-, with neutropenia andproperdin deficiency: case report, 332

Mucopolysaccharidoses: review article, I69Mucopolysaccharidosis I, assay of a-L-iduronidase in

peripheral leucocytes in diagnosis: shortcommunication, I49

Multiple sclerosis, blood groups and other polymorph-isms, 30

Muscular atrophy, Charcot-Marie-Tooth, linkage re-lations of locus for X-borne type, and thatfor Xg blood groups: short communica-tion, 399

proximal spinal, juvenile, family with dominant in-heritance, I3I

spinal, of facioscapulohumeral type, 285Muscular dystrophy, benign 'X' linked, with cardiac in-

volvement, unusual family history, 352

Neural tube defects, alpha-fetoprotein level in amnioticfluid in mice, 5II

genetic relation to spinal dystaphism, 343Neutropenia and properdin deficiency with 46,XY/46,

XY,21q- mosaicism: case report, 332Nitrazepam, polymorphic acetylation, I7

Obituary: Harold Cummins (1894-1976), 540Ocular albinism and deutan colour blindness, evidence

against direct measurable linkage: shortcommunication, 3I9

Oxford Record Linkage Study Area, pyloric stenosis, 439Palm crease variants, topographic approach for analysis,

3IOParaplegia, spastic, see Spastic paraplegiaParoxonase, plasma activity, genetic polymorphism and

interethnic variability, 337Pfeiffer syndrome: report of a family and review of

literature, 277Phytohaemagglutinin stimulated lymphocytes, use to

study effects of HGPRT deficiency onpolynucleotide and protein synthesis inLesch-Nyhan syndrome, 9I

Polydactyly, index finger, hereditary: phenotypic, radio-logical, dermatoglyphic, and genetic find-ings in large family, 469

Polymorphism, genetic, and interethnic variability ofplasma paroxonase activity, 337

Pompe's disease, 4-methylumbelliferol-a-glucosidase forprenatal diagnosis: short communication,I48

Prader-Willi syndrome with 15/15 translocation: casereport, I52

Pre-eclampsia/eclampsia (gestosis), immunogenetic fac-tors in aetiology: review article, 200

in twin pregnancies, 208Prenatal diagnosis of genetic disorders, I82Progeria in twins: correspondence, I64Properdin deficiency and neutropenia with 46,XY/46,

XY,21q - mosaicism: case report, 332Pseudohermaphroditism due to XY gonadal absence

syndrome: case report, 242Pseudoinflammatory macular dystrophy, familial (here-

ditary fundus dystrophy), probable com-mon origin in an English and an Australianfamily, 27I

Hernia, diaphragmatic, south-west England, 253Huntington's disease, age of onset: lack of parental age

effect, 462probable case of mutation: case report, 75

Hypogonadism, hypogonadotrophic, with anosmia (Kall-mann's syndrome) in male, with familialincidence of small metacentric chromo-some (47,XY,mat ? + ): case report, 71

Hypohidrotic ectodermal dysplasia, X-linked, with someunusual features, 2I2

a-L-Iduronidase assay in peripheral leucocytes inmucopolysaccharidosis I: short com-munication, 149

Index finger polydactyly, hereditary: phenotypic, radio-logical, dermatoglyphic, and genetic find-ings in large family, 469

Infantile cystinosis, France, genetics, incidence, geo-graphic distribution, 434

Iniencephaly and anencephaly, congenital malformationsassociated with, 263

International Advisory Committee on Cytogenetic Regi-sters to the Standing Committee onStandardization in Human Cytogenetics,data, announcement, 63

International Conference on Standardization in HumanGenetics, 5th Mexico City, 1976, an-nouncement, 336

Isochromosomes, dicentric X in man, 4 cases of Turner'ssyndrome, 496

Isoenzyme studies in Krabbe's globoid cell leucodys-trophy, I95

Kallmann's syndrome, in male with familial incidence ofsmall metacentric chromosome (47,XY,mat? +): case report, 7 I

Klippel-Feil syndrome (cervical vertebral fusion) withconsanguineous parents: case report, 246

Krabbe's globoid cell Jeucodystrophy, isoenzymestudies, I95

Larsen syndrome in two generations of an Italian family:case report, 538

Lens examination in identification of carriers of Lowe'ssyndrome, 449

Lesche-Nyhan syndrome, use of phytohaemagglutininstimulated lymphocytes to study effects ofHGPRT deficiency on polynucleotide andprotein synthesis, 9I

Leucocyte values of a-L-iduronidase activity in muco-poJysaccharidosis I: short communication,I49

Limb anomalies, with congenital scalp defects, report of afamily, 466

Lowe's syndrome: identification of carriers by lens ex-amination, 449

Mental retardation, familial, and consanguinity, 27severe, with partial trisomy 10q and partial mono-

somy 2q, 507scalp hair patterns, I23population, north-east Scotland, chromosome survey,

2954-Methylumbelliferol-ca-glucosidase activity for prenatal

diagnosis of Pompe's disease: short com-munication, I48

Miscarriage, risks, after amniocentesis: annotation, 351Molecules, recombinant, impact on science and society,

Symposium, Cambridge, Mass., 8 to 10June 1976, announcement, i68

Subject index 549

Pterygium syndrome, three offspring one family: casereport, 249

Pyloric stenosis, genetic analyses suggesting specificmaternal effect, 290

in Oxford Record Linkage Study Area., 439

Renal function studies in infant with 4p(-) syndrome:case report, 522

REVIEW ARTICLES:Genetic markers in atherosclerosis: a review, 8IImmunogenetic factors in aetiology of pre-eclamp-

sia/eclampsia (gestosis), 200The mucopolysaccharidoses, I69Scrapie: a review of its relation to human disease

and ageing, 479

Scalp, defects, congenital, with distal limb anomalies,family report, 466

hair patterns in mental subnormality, 123Sclerosis, multiple, see Multiple sclerosisScrapie, relation to human disease and ageing: review

article, 479Shetland Islands, haemoglobin Saskatoon p22glu-.lYa in a

woman, 477Spastic paraplegia, familial, associated with Anderson-

Fabry's disease, family study, 455X-linked recessive type, absence of detectable link-

age with Xg, 217Spinal, dysraphism: genetic relation to neural tube mal-

formations, 343muscular atrophy, chronic, of facioscapulohumeral

type, report and review of literature, 285Southwest American Indian patients with chromosome

abnormalities: correspondence, I64Stadler Genetics, Symposium, eighth, Missouri, 9-10

April 1976: announcement, 63Steatocystoma multiplex and Gardner's syndrome, two

unusual genetically determined conditionsin same patient: case report, 407

Strabismus, craniostenosis, hip osteochondritis, brachy-dactyly, symphalangism, and carpal andtarsal fusion: inherited syndrome, 394

Supravalvular aortic stenosis-infantile hypercalcaemiasyndrome: in vitro hypersensitivity tovitamin D2 and calcium, 223

Symphalangism, carpal and tarsal fusion, brachydactyly,craniosynostosis, strabismus, and hiposteochondritis, inherited syndrome, 394

Syndrome designations, 266

Tel Hashomer camptodactyly syndrome; camptodactyly,with muscular hypoplasia, skeletal dys-plasia, and abnormal palmar creases, I36

Tenth Miles International Symposium: Impact of re-combinant molecules on science and soci-ety, Cambridge, Mass., 8 to 10 June 1976:announcement, I68

Teratology Society, 1976 Annual Meeting, Carmel, 20-23 June 1976, announcement, 63

Tetraploidy, increased in cultured skin fibroblast, theGardner syndrome, 52

in liveborn infant: case report, 329Thalassaemia, P, African forms, linkage relationships

between ,p- and 8-structural loci, 20Toxaemia, pre-eclamptic, of pregnancy, consanguinity

and twinning, aspects, Ankara, ITranslocation, 15/15, in Prader-Willi syndrome: case

report, 152

D/D, association with fetal wastage and aneuploidy,four families, 389

18/21 in partial trisomy 18, shown by satellite stain-ing technique: case report, 520

21/21 mongol, with giant short arm of chromosome21 in mother: case report, 41I

reciprocal, 4q-;21p +, giving rise to Down's syn-drome: case report, 323

Robertsonian, heterozygous, structure and inheri-tance in man, 38i

Trigonocephaly and associated minor anomalies inmother and son: case report, 77

Triploidy, 69,XXX, clinical details, cytogenetic studies,and cellular physiology, biological effect inman, 37I

Trisomy, 3q partial, with clinical features: case report,525

4, long arm, associated with multiple congenitaldefects: case report, 326

8 restricted to cultured fibroblasts, 229'partial 9p', six cases and four carriers, three genera-

tions, 579, partial, long arm: case report, 239

with resemblance to Coffin-Siris syndrome: casereport, 237

lOq, partial, and partial monosomy 2q in a boy withsevere mental retardation, 507

13, in female over 5 years of age: case report, I57with increase of alpha-feto protein, antenatal

diagnosis: case report, 400D, partial (14 or 15), a diagnostic and cytognetic

-dilemma: case report, 53518, partial, and partial monosomy in two offspring of

carrier of pericentric inversion of chromo-some 18, 366

18 with translocation 18/21, shown by satellitestaining technique: case report, 520

22, confirmation by trypsin-giemsa staining: casereport, 5I7

syndrome, recurrence, and abnormal chromosome22, 50I

Turner's syndrome, with dicentric X isochromosomes, 4cases, 496

offspring from triple X female: case report, 5 i6Twins, chimerism, shown by cytogenetic studies, red cell

grouping, and white cell :HL-A typing:case report, 528

Cornelia de Lange syndrome in one: case report, 404discordance for: case report, 402monozygotic, discordant for sex: case report, 64pre-eclampsia/eclampsia during pregnancy, 208pre-eclamptic toxaemia of pregnancy, and con-

sanguinity, aspects, Ankara, iprogeria: correspondence, I64

Ureteric bud anomalies, familial: case report, i6IVitamin D2 and calcium, in vitro hypersensitivity, supra-

valvular aortic stenosis-infantile hyper-calcaemia, 223

Wolman's disease, prenatal diagnosis, 49X-linked, anhidrotic ectodermal dysplasia, with some

unusual features, 212recessive type of pure spastic paraplegia in large

pedigree, absence of detectable linkagewith Xg, 217

ZZ genotype of alpha,-antitrypsin, in patient with'Duarte variant with clinical signs', 46

550 Snbject index