Journal of Medical GeneticsDecember 1994 Vol 31 No 12

Contents

Review articleRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of theretina, choroid, and vitreous P J Rosenfeld, VA McKusick, J S Amberger, T P Dryja 903

Original articlesClose linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologicallynormal and abnormal families M Bitner-Glindzicz, Y de Kok, D Summers, I Huber, F P M Cremers,H-H Ropers, W Reardon, M E Pembrey, S Malcolm 916X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to theDXS455 VNTR and a new, highly informative microsatellite marker (DXS1684) N Dahl, F Samson,N S T Thomas, L J Hu, W Gong, G Herman, J Laporte, P Kioschis, A Poustka, J L Mandel 922Genetic heterogeneity in hereditary haemorrhogic telangiectasia M EM Porteous, A Curtis,O Williams, D Marchuk, S S Bhattacharya, J Bum 925Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinicalphenotype K A McAllister, F Lennon, B Bowles-Biesecker, W C McKinnon, E A Helmbold,D S Markel, C E Jackson, A E Guttmacher, M A Pericak-Vance, D A Marchuk 927Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locusheterogeneity P Heutink, T Haitiema, G J Breedveld, B Janssen, L A Sandkuijl, C J M Bontekoe,C J J Westerman, B A Oostra 933Automated analysis of multiplex microsatellites G R Taylor, J S Noble, R F Mueller 937Genetic epidemiology of early onset breast cancer D Eccles, A Marlow, G Royle, A Collins,N E Morton 944The impact of genetic counselling on females in fragile X families G Curtis, N Dennis, J MacPherson 950Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients andtheir familes M A Hannan, D Sigut, M Waghray, G G Gascon 953

Syndrome of the monthSyndactyly, ectodermal dysplasia, and cleft lip/palate J Zlotogora 957

Brief papersAnophthalmia with cleft palate and micrognathia: a new syndrome? S R Phadke, A K Sharma,S S Agarwal 960Two fetuses with Fryns syndrome without diaphragmatic defects K K Wilgenbus, R Engers,G Crombach, F Majewski 962Determination of a new collagen type I a2 gene point mutation which causes a Gly640 Cyssubstitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation M Gomez-Lira,A Sangalli, P F Pignatti, M C Digilio, A Giannotti, E Carnevale, M Mottes 965Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus M Leao,M L Ribeiro do Silva 969Refinement of the chromosomal position of the X linked juvenile retinoschisis gene A A B Bergen,J B ten Brink, L M Bleeker-Wagemakers, M J van Schooneveld 972Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin M Bueno,G Oliv6n, A Jim6nez, JM Garagorri, A Sarria, A L Bueno, M Bueno Jr, F J Ramos 976

Short reportAssessment of Yqh translocations J L Fem6ndez, S Pereira, A Campos, V Goyanes 978

Letters to the EditorMeiotic drive at the myotonic dystrophy locus M Gennarelli, B Dallapiccola, M Baiget, L Martorell,G Novelli 980Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia,peculiar face, and developmental retardation (MIM 273390) S Ohdo, T Sonoda, K-I Ohba 980

Book reviews 981

Notices 982

Index 983

BMJ PUBLISHING GROUP TAVISTOCK SQUARE LONDON WC1 H 9JR

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

Volume 31 Contents

No 1 January 1994 Review articleMouse homologues of human hereditary disease A G Searle, J H Edwards, J G Hall 1

Original articlesSotos syndrome: a study of the diagnostic criteria and natural history T R P Cole, H E Hughes 20French myotonic dystrophy families show expansion of a CTG repeat in complete linkagedisequilibrium with an intragenic 1 kb insertion C Lavedan, H Hofmann-Radvanyi, C Boileau,C Bona,ti-Pelli6, D Savoy, P Shelbourne, C Duros, J-P Rabes, / Dehaupas, S Luce, K Johnson,C Junien 33Absence of myotonic dystrophy in southern African Negroids is associated with a significantlylower number of CTG trinucleotide repeats A Goldman, M Ramsay, T Jenkins 37Comparison of the relative levels of the 3243 (A-+G) mtDNA mutation in heteroplasmic adultand fetal tissues P M Maffhews, J Hopkin, R M Brown, J B P Stephenson, D Hilton-Jones,G K Brown 41Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder S N0rby,P Lestienne, / Nelson, I-M Nielsen, H Schmalbruch, 0 Sjo, M Warburg 45Ascertainment and severity of Marfan syndrome in a Scottish population J R Gray,A B Bridges, M J W Faed, T Pringle, P Baines, J Dean, M Boxer 51Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) infamilies with familial adenomatous polyposis S V Hodgson, D T Bishop, B Jay 55The spectrum of Pi thalassaemia mutations in the UAE national population R Quaife,L AI-Gazali S Abbes, P Fitzgerald, A Fitches, D Valler, J M Old 59Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis(ARC) syndrome: report of three new cases and review S P Horslen, 0 WJ Quarrell,M S Tanner 62

Brief papersTwo brothers with characteristic facial appearance, severe psychomotor retardation,hypospadias, contractures, and other symptoms: a new recessive syndrome? G Wol/ff,E Zimmermann, B Zimmerhackl, C Harnasch, C Jung, E Back 65Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: anadditional family with Bart-Pumphrey syndrome J C Ramer, D B Vasily, R L Ladda 68De novo deletion (2)(pl 1.2pl 3): clinical, cytogenetic, and immunological data F J Los,JO Van Hemel, H J J Jacobs, S L S Drop, J J M van Dongen 72Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situhybridisation B Blanco, F Loeza, A Camevale 74Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier femalefor fragile X syndrome M I Tejada, E Momet, E Tizzano, M Molina, M Baiget, A Boue 76

Short reportsExclusion of two candidate loci for autosomal recessive nemaline myopathy E Tahvanainen,A H Beggs, C Wallgren-Peffersson 79Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiencypatients Y Wang, l L Yu, Q Sheng, C Meng, J Sun, S S Chen 81

AbstractsMedical genetics: advances in brief 83

Letters to the EditorPaternal and maternal transmission of pseudohypoparathyroidism type la in a family withAlbright hereditary osteodystrophy: no evidence of genomic imprinting V Schuster, W Kress,K Kruse 84Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542XM Desgeorges, M Laussel, B Rollin, J Demaille, M Claustres 84Cutis laxa: a feature of Costello syndrome S J Davies, H E Hughes 85Fibrodysplasia ossificans progressiva T E Herman 85Low segregation ratios in autosomal recessive disorders J C Oosterwijk 85Del(1 8p) syndrome with a single central maxillary incisor EM Peralta, A Lantigua 86Prevention of Mediterranean anaemia in Latium, Italy, today I Bianco, B Graziani, M Lerone,D Ponzini, M C Aliqu6, A Amato, E Foglieffa, M P Cappabianca, E Greco, P Di Biagio,N D'Arcangeli, S Rinaldi 86

Book reviews 87

Notice 88

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 2 February 1994 Review articleThe molecular basis of genetic dominance A 0 M Wilkie 89

Original articlesPseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling(PRINS) C A Brandt, B Djernes, H Str0mkicer, M B Petersen, S Pedersen, J Hindkicer,J Brinch-lversen, G Bruun-Petersen 99Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhornsyndrome L L Estabrooks, A N Lamb, A S Aylsworth, N P Callanan, K W Rao 103Mosaicism with a normal cell line and an autosomal structural rearrangement R J M Gardner,H E Dockery, P H Fitzgerald, R G Parift, D R Romain, N Scobie, R L Shaw, P Tumewu,A J Watt 108Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imagingin a voluntary family register R G Elles, K A Hodgkinson, N P Mallick, D J O'Donoghue,A P Read, S Rimmer, E A Watters, R Harris 115Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: anautosomal recessive syndrome B Z Garty, B Eisenstein, J Sandbank, S Kaffe, R Dagan,N Gadoth 121Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and geneticdiagnoses D R FitzPatrick, P A M Raine, J G Boorman 126Origin of a regressed myotonic dystrophy allele M Giordano, M S De Angelis, R Mutani,P M Richiardi 130Linkage disequilibrium between FD1 -D9S202 haplotypes and the Friedreich's ataxia locus in acentral-southern Italian population L Pianese, S Cocozza, G Campanella, / Castaldo,F Cavalcanti G De Michele, A Filla, A Monticelli M Munaro, E Redolfl, S Varrone, M Pandolfo 133

Syndrome of the monthSpondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) P Beighton 136

Brief papersHydrocephalus in an infant with trisomy 22 F Fahmi, S Schmerler, R G Hutcheon 141Recurrence of Pallister-Hall syndrome in two sibs H M Thomas, P J Todd, D Heaf, A E Fryer 145Acute myeloid leukoemia in a patient with Seckel syndrome A Hayani C R Suarez, Z Molnar,M LeBeau, J Godwin 148Partial trisomy 3q causing mild Cornelia de Lange phenotype S E Holder, L M Grimsley,R W Palmer, L J Butler, M Baraitser 150Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy lossG C Wolf, J Mao, L lzquierdo, G Joffe 153Another patient with an interstitial deletion of chromosome 9: case report and a review of sixcases with del(9)(q22q32) H Y Kroes, J H A M Tuerlings, R Hordijk, N R P Folkers,l P ten Kate 156Association of 1078 del T cystic fibrosis mutation with severe disease P Moullier, M Jehanne,M P Audrezet, B Mercier, C Verlingue, / Quere, H Guillermit, 0 Raguenes, V Storni, G Rault,C Ferec 159

AbstractsAbstracts of the British Medical Genetics Conference, Leeds, 22 to 24 September 1993 162Medical genetics: advances in brief 176

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No3 March 1994 Original articlesNorthern epilepsy syndrome: an inherited childhood onset epilepsy with associated mentaldeterioration A Hirvasniemi, H Lang, A-E Lehesioki, J leistiOn the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletionsarise in oogenesis and most point mutations result from events in spermatogenesis T Grimm,G Meng, S Liechti-Gallati, T Beffecken, C R M/ller, B M/llerGenetic study of indirect inguinal hernia Y Gong, C Shao, Q Sun, B Chen, Y Jiang, C Guo,J Wei, Y GuoX linked Charcot-Marie-Tooth disease (CMTXI): a study of 15 families with 1 2 highlyinformative polymorphisms S Cochrane, J Bergoffen, N D Fairweather, E Miuller,M L Mostacciuolo, A P Monaco, K H Fischbeck, N E HaitesConfirmation of association between the e4 allele of apolipoprotein E and Alzheimer'sdisease M Liddell, J Williams, A Bayer, F Kaiser, M OwenFamilial pericentric inversion inv(8)(p23ql 1) H Boyd, J Kaste, E Hovi, U-M Ritanen-Mohammed, H Ka''riainen, A de /a Chapelle, A-E LehesiokiElucidation of structural abnormalities of the X chromosome using fluorescence in situhybridisation with a Y chromosome painting probe R T Howell, R Millener, S Thorne,J O'Loughlin, J Brassey, A McDermottThalassaemia in Azerbaijan A M Kuliev, I M R Rasulov, T Dadasheva, E / Schwarz,C Rosatelli, L Saba, A Meloni, E Gemidjioglu, M Petrou, B ModellPyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance:exclusion of linkage to ALAS2 at Xpl 1.21 by polymorphism analysis P E Jardine, P D Cotter,S A Johnson, E J Fitzsimons, L Tyfleld, P W Lunt, D F BishopCrouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter W Reardon,L van Herwerden, C Rose, B Jones, S Malcolm, R M WinterStargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses S Gerber,S Odent, A Postel-Vinay, N Janin, J-L Dufier, A Munnich, J Frezal, J Kaplan

Medical genetics around the worldAutosomal recessive disorders among Arabs: an overview from Kuwait A S Teebi

Brief papersValue of chromosome painting in determining the chromosomal outcome in offspring of a 1 2;1 6translocation carrier C A Brandt, T Lyngbye, S Pedersen, L Bolund, U FriedrichTrisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of apresumptive gene involved in corpus callosum development M C Digilio, A Giannotti,G Floridia, F Uccellatore, R Mingarelli, C Danesino, B Dallapiccola, 0 ZuffardiApparent SMA unlinked to 5q J M Cobben, H Scheffer, M de Visser, J H Begeer,WM Molenoar, G van der Steege, C H C M Buys, G J van Ommen, L P Ten KateX linked mental retardation with non-deletional a thalassaemia (ATR-X): further delineation ofthe phenotype R Ogle, M DeSouza, C Cunningham, B Kerr, D SillenceA PCR based method to determine the Kalow allele of the cholinesterase gene: the EK allelefrequency and its significance in the normal population D Gaffney, R A CampbellSpastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of theFitzsimmons syndrome R C M HennekamTrisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mentaldevelopment C J English, J A Goodship, A Jackson, M Lowry, J Wolstenholme

Short reportsParental origin of the X chromosome in a patient with a Robertsonian translocation and Turner'ssyndrome M Krajinovic, K Ivanovic, L Mestroni, V Diklic, J NikolisNeurogenic bladder in Hunter's syndrome K Koyama, Y Moda, A Sone, H Tanaka, Y Hino

AbstractsMedical genetics: advances in brief

Letters to the EditorEpidermal mosaicism and Blaschko's lines J ChemkeHomozygosity at the dopamine D3 receptor locus is not associated with schizophreniaC Laurent, C Savoye, D Samolyk, R Meloni, J MalletClinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeG Gillessen-Kaesbach, B HorsthemkeGenetic studies of thymic carcinoids in multiple endocrine neoplasia type 1 B T Teh,N K Hayward, M K Walters, J J Shepherd, S Wilkinson, M Nordenskjold, C Larsson

Book reviews

177

183

187

193

197

201

206

209

213

219

222

224

234

238

242

245

248

251

253

255257

259

260

260

260

261

262

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 4 April 1994 Review articleThe morbid anatomy of the human genome: chromosomal location of mutations causing disease(update 1 December 1993) VA McKusick, J S Amberger 265

Original articlesLeber's hereditary optic neuropathy: correlations between mitochondrial genotype and visualoutcome R J Oostra, P A Bolhuis, F A Wi/burg, G Zorn-Ende, EM Bleeker- Wagemakers 280Detection of de novo mutations and analysis of their origin in families with X linkedhypohidrotic ectodermal dysplasia J Zonana, M Jones, A Clarke, J Gault, B Muller,N S T Thomas 287A study of 1 59 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whoseparents were both unaffected T Coelho, A Sousa, E Lourenfo, J Ramalheira 293Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlationwith CTG amplification P Turnpenny, C Clark, K Kelly 300The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution atthe splice acceptor site of intron 5 of the COL1 A2 gene A J Carr, A A Chiodo, J M N Hilton,C W Chow, A Hockey, W G Cole 306Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from amaternal intrachromosomal insertion J C K Barber, K H Ellis, L V Bowles, J D A Delhanty,R F Ede, B M Male, D M Eccles 312Complementation studies in Niemann-Pick disease type C indicate the existence of a secondgroup S J Steinberg, C P Ward, A H Fensom 317

Syndrome of the monthDermal eccrine cylindromatosis- / D C van Balkom, R C M Hennekam 321

Brief papersHirschsprung's disease associated with a deletion of chromosome 10 (qI 1.2q21.2): a furtherlink with the neurocristopathies? M S Fewtrell P K H Tam, A H Thomson, M Fitchett, J Currie,S M Huson, L M Mulligan 325Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observedin a patient with'Wolfram syndrome (DIDMOAD) D Pilz, 0 WJ Quarrell, E WJones 328Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a newsyndrome? T Yorifuji, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno,Y Takahashi, T Okuno 331Isolation and characterisation of a panel of cosmids which allows unequivocal identification ofchromosome deletions involving the RBI gene using fluorescence in situ hybridisationJ K Cowell, R Jaou, H Kempski 334

Short reportsA new missense mutation of fibrillin in a patient with Marfan syndrome D R Hewett, J R Lynch,A Child, B C Sykes 338Genetic heterogeneity in Rieger eye malformation E Legius, C E M de Die-Smulders, FVerbraak, H Habex, R Decorte, P Marynen, J P Fryns, J J Cassiman 340Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy inMorocco indicates genetic homogeneity of the disease in North Africa F El Kerch, A Sefiani,K Azibi, N Boutaleb, M Yahyaoui, A Bentahila, M-C Vinet, F Leturcq, L Bachner, J Beckmann,K P Campbell, F M S Tom6, M Fardeau, J-C Kaplan 342Deletion mopping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21P A Clarke, T Lester, L Villard, M Fontes, C Kinnon 344

Conference reportWorkshop on inherited disorders and their genes in different European populations, Obernai,Strasbourg, France, 26-30 November 1 993 P S Harper 346

AbstractsMedical genetics: advances in brief 348

Letter to the EditorTestis determining gene(s) on the X chromosome short arm: chromosomal localisation andpossible role in testis determination T Ogata, N Matsuo 349

Book reviews 350

Notice 350

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 5 May 1994 Original articlesGeographical distribution of TTR met30 carriers in northern Sweden: discrepancy betweencarrier frequency and prevalence rate G Holmgren, P M P Costa, C Andersson,K Asplund, L Steen, L Beckman, P-O Nylander, A Teixeira, M J M Saraiva, P P Costa 351A point mutation in the human serum albumin gene results in familial dysalbuminaemichyperthyroxinaemia C E Petersen, A G Scottolini, L R Cody, M Mandel, N Reimer,N V Bhagavan 355Aspartylglucosaminuria in northern Norway: a molecular and genealogical study0 K Tollersrud, 0 Nilssen, L Tranebijrg, 0 Borud 360The impact of population based screening for carriers of cystic fibrosis H Bekker,G Denniss, M Modell, M Bobrow, T Marteau 364A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: descriptionand clinical data M Chill6n, T Casals, J Gimenez, V Nunes, X Estivill 369New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in thesame family G Camera, G Stella, A Camera 371Instability of CAG repeats in Huntington's disease: relation to parental transmission andage of onset Y Trottier, V Biancalana, J-L Mandel 377Female predisposition to cranial neural tube defects is not because of a difference betweenthe sexes in the rate of embryonic growth or development during neurulation F A Brook,J P Estibeiro, A J Copp 383Molecular evidence for non-penetrance in Best's disease B H F Weber, D Walker,B Muiller 388

Syndrome of the monthSaethre-Chotzen syndrome W Reardon, R M Winter 393

Brief papersA case of paternally inherited congenital myotonic dystrophy M Nakagawa, H Yamada,I Higuchi, Y Kaminishi, T Miki, K Johnson, M Osame 397Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilialheterogeneity at the clinical level 0 Amoral, A M Fortuna, L Lacerda, R Pinto,M C Sa Miranda 401A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonicskeletal maturation, and congenital fibre type disproportion Q H Qazi, D Markouizos,C Rao, T Sheikh, E Beller, R Kula 405Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a newcase M L Martinez-Frias, M Alcaraz, P Espejo, M A Gomez, R Garcia de Leon,L Gonzalez Moro 410Partial monosomy of 7q32 in a case of de novo rcp(7;1 5)(q32;ql 5) E D'Alessandro,C Ligas, M L Lo Re, M P Marcanio, T Gentile, G Del Porto 413Amyloid polyneuropathy in two German-American families: a new transthyretin variant(Val 107) T Uemichi, M A Gertz, M D Benson 416Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient / M Thomas,R Sayee, L Shavanthi, H Sridevi 418

Short reportGenetics in art A E H Emery, M Emery 420

Letters to the EditorDrug induced VATER association: is dibenzepin a possible cause? P Merlob, N Naor 423Kyphomelic dysplasia M A R O'Reilly, C M Hall 423Velocardiofacial syndrome and DiGeorge sequence R J Shprintzen 423Multiple origins of X chromosome tetrasomy W P Robinson, F Binkert, A A Schinzel,S Basaran, R Mikelsaar 424Interpreting the evidence for an association between the retinoic acid receptor locus andnon-syndromic cleft lip with or without cleft palate L E Mitchell 425Deletions of the entire APC gene are associated with sessile colonic adenomasS V Hodgson, N L K Fagg, / C Talbot, M Wilkinson 426

Book reviews 426

Editorial noteIndexing Journal of Medical Genetics D Blake 428

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No6June 1994 Original articlesThe French Wilms' tumour study: no clear evidence for cancer prone families C Moutou,J Hochez, A Chompret, M-F Tournade, C Le Bihan, J-M Zucker, J Lemerle, C Bonoiti-Pelli6Charcot-Marie Tooth disease in northern Sweden: pedigree analysis and the presence of theduplication in chromosome 17pl 1.2 B H Holmberg, G Holmgren, E Nelis,C Van Broeckhoven, B WesterbergPresymptomatic diagnosis in families with adenomatous polyposis using highly polymorphicdinucleotide CA repeat markers flanking the APC gene WA Eckert, C Jung, G WolffThe use of loss of constitutional heterozygosity data to ascertain the location ofpredisposing genes in cancer families M D Teare, K Rohde, M F Santibainez KorefSegregation analysis of Alagille syndrome S Dhorne-Pollet, J-F Deleuze, M Hadchouel,C BonaXi-Pelli6Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome withpleiotropy? C Eng, V Murday, S Seal, S Mohammed, S V Hodgson,M A Chaudary, I S Fentiman, B A J Ponder, R A EelesPhenotypic analysis of triphalangeal thumb and associated hand malformationsJ Zguricas, P J L M Snijders, S E R Hovius, P Heutink, B A Oostra, D LindhoutGenital tract function in men with Noonan syndrome M A Elsawi, J P Pryor, G Kluflo,C Barnes, M A Patton

Syndrome of the monthThe Denys-Drash syndrome R F Mueller

Brief papersA male with a de novo translocation involving loss of 15ql 1ql 3 material and Prader-Willisyndrome .S Vickers, M Dahlitz, C Hardy, M Kilpatrick, T WebbMeckel syndrome: what are the minimum diagnostic criteria? C Wright, R Healicon,C English, J BurnCostello syndrome: natural history and differential diagnosis of cutis laxa S J Davies,H E HughesFour cases of bladder exstrophy in two families E J Messelink, D C Aronson, M Knuist,H A Heij, A VosUnusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome) D Narayan,S N Krishnan, M Upender, T S Ravikumar, M J Mahoney, T F Dolan Jr, A S Teebi,G G HaddadA further patient with Pai syndrome with autosomal dominant inheritance?S Rudnik-Schoneborn, K ZerresNull alleles of the aldolase B gene in patients with hereditary fructose intolerance M Ali,G Tun9man, N C P Cross, M Vidailhet, I Bokesoy, R Gitzelmann, T M Cox

AbstractsMedical genetics: advances in brief

Letters to the EditorAn inherited dystrophin deletion without muscle weakness A L Collins, K G Leyland,C R Kennedy, D Robinson, H C SprattThe newly recognised skeletogenital syndrome T I Farag

Book reviews

429

435

442

448

453

458

462

468

471

478

482

486

490

493

497

499

504

505505

506

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 7 July 1994 Review articleA gene map of congenital malformations A 0 M Wilkie, J S Amberger, VA McKusick 507

Original articlesPaternal transmission of congenital myotonic dystrophy J Bergoffen, J Kant, J Sladky,D McDonald-McGinn, E H Zackai, K H Fischbeck 518Lethal congenital contracture syndrome: further delineation and genetic aspectsK Vuopala, R Herva 521A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cellline and 16 45,X patients A L Collins, A E Cockwell, P A Jacobs, N R Dennis 528"Compensatory" uniparental disomy of chromosome 21 in two cases 0 Bartsch,M B Petersen, / Stuh/mann, G Mau, M Frantzen, E Schwinger, S E Antonarakis,M Mikkelsen 534Mutation analysis in 600 French cystic fibrosis patients F Chevalier-Porst, A M Bonardot,R Gilly, J P Chazalette, M Mathieu, D Bozon 541Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity,specificity, and costs Z H Miedzybrodzka, Z Yin, K F Kelly, N E Haites 545Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations bynon-radioactive, single strand conformation polymorphism minigelsA lolascon, T Parrella, S Perrotta, 0 Guardamagna, P M Coates, M Sartore, S Surrey,P Fortina 551

Clinical practice in medical geneticsGuidelines for the molecular genetics predictive test in Huntington's disease 555

Syndrome of the monthBeckwith-Wiedemann syndrome M Elliott, E R Maher 560

Brief papersTwo sibs who are double heterozygotes for achondroplasia and pseudoachondroplasticdysplasia C G Woods, J G Rogers, V Mayne 565Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndromeK H Orstavik, N McFadden, J Hagelsteen, E Ormerod, C Birger van der Hagen 570Familial pericentric inversion of chromosome (p34q23) and male infertility with stagespecific spermatogenic arrest D Meschede, U G Froster, M Bergmann, E Nieschlag 573A new detection method for the K variant of butyrylcholinesterase based on PCR primerintroduced restriction analysis (PCR-PIRA) K Shibuta, M Abe, T Suzuki 576Identification of a key recombinant which assigns the incomplete congenital stationarynight blindness gene proximal to MAOB A A B Bergen, Ph Kestelyn, M Leys, F Meire 580

AbstractsMedical genetics: advances in brief 583

Book reviews 584

Notices 584 on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 8 August 1994 Review articleInv dup(1 5) supernumerary marker chromosomes T Webb 585

Original articlesAnticipation resulting in elimination of the myotonic dystrophy gene: a follow up study ofone extended family C E M de Die-Smulders, C H Howeler, J F Mirandolle,H G Brunner, V Hovers, H Bruggenwirth, H J M Smeets, J P M Geraedts 595Long segment and short segment familial Hirschsprung's disease: variable clinicalexpression at the RET locus P Edery, A Pelet, L M Mulligan, L Abel, T Attie, E Dow,D Bonneau, A David, W Flintoff, D Jan, H Journel, D Lacombe, M Le Merrer, C Meijers,P Parent, N Philip, H Plauchu, P Sarda, A Verloes, C Nihoul-Fke'kt, R Williamson,B A J Ponder, A Munnich, S Lyonnet 602Parental origin of transcription from the human GNAS1 gene R Campbell, CM Gosden,D T Bonthron 607First trimester prenatal diagnosis of Menkes disease by DNA analysis Z Tukner,T T0nnesen, J Bohmann, W Marg, N Horn 615Neoplastic diseases in families of breast cancer patients H Tulinius, G H Olafsdottir,H Sigvaldason, L Tryggvadoffir, K Bjarnadottir 618Apolipoprotein CII-Padova (Tyr37 -÷ stop) as a cause of chylomicronaemia in an Italiankindred from Siculiana S Tuzg67o, S M Bijvoet, T Bruin, J J P Kastelein, M R Hayden 622Muir-Torre syndrome: a variant of the cancer family syndrome N R Hall, M A T Williams,V A Murday, J A Newton, D T Bishop 627An extra band within the human 9qh + region that behaves like the surroundingconstitutive heterochromatin J L Fernmndez, S Pereira, A Campos, J Gosolvez, VGoyanes 632Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laronsyndrome G B Schaefer, A L Rosenbloom, J Guevara-Aguirre, E A Campbell, F Ullrich,K Patil, J L Frias 635

Syndrome of the monthCongenital contractural arachnodactyly (Beals syndrome) D Vilioen 640

Brief papersMaternal uniparental disomy of chromosome 13 in a phenotypically normal childH Slater, J H Shaw, G Dawson, A Bankier, S M Forrest 644Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletionof chromosome 3 (46,XY,del(3)(q21 q23)) J Wolstenholme, J Brown, K G Masters,C Wright, C J English 647X;Y translocation in a girl with short stature and some features of Turner's syndrome:cytogenetic and molecular studies T Kuznetzova, A Baranov, T Ivaschenko, G A Savitsky,O E Lancevo, M R Wang, M Giollant, P Malet, T Kascheeva, V Vakharlovsky, V S Baranov 649Partial trisomy for 2q in a patient with dir dup(2)(q33.1q35) D R Romoin,N G Mackenzie, D Moss, L M Columbano-Green, R H Smythe, R G Parfitt, J W Dixon 652

Short reportChemiluminesc-ent detection of blotted PCR products (CB-PCR) of two CAG dynamicmutations (Huntington's disease and spinocerebellar ataxia type 1) S Castelvi-Bel,T Matilla, M Banchs, H Kruyer, J Corral, M Mila, X Estivill 654

AbstractsMedical genetics: advances in brief 656

Letters to the EditorExpanded CAG trinucleotide repeat of Huntington's disease gene in a patient withschizophrenia and normal striatal histology D St Clair 658Further family with autosomal dominant patent ductus arteriosus C G Woods,L J Sheffield 659Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in humana-L-fucosidase H Cragg, B Winchester, H-C Seo, J O'Brien, D Swallow 659

Book reviews 661

Notice 662

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 9 September 1994 Review articleThe arylsulphatase A gene and molecular genetics of metachromatic leucodystrophyM L Barth, A Fensom, A Harris 663

Original articlesFrequency of arylsulphatase A pseudodeficiency associated mutations in a healthypopulation M L Barth, C Ward, A Harris, A Soad, A Fensom 667A single origin for the most frequent mutation causing late infantile metachromaticleucodystrophy J Zlotogora, Y Furman-Shaharabani, A Harris, M L Barth, K von Figura,V Gieselmann 672A gene for pachyonychia congenita is closely linked to the keratin gene cluster on1 7ql 2-q21 C S Munro, S Carter, S Bryce, M Hall, J L Rees, L Kunkeler, A Stephenson,TStrachan 675FISH detection of trisomy 21 in interphase by the simultaneous use of two differentiallylabelled cosmid contigs A F Davies, L Barber, M Murer-Orlando, M Bobrow, M Adinolfi 679Anticipation in Swedish families with bipolar affective disorder P-O Nylander,C Engstrom, J Chotai, J Wahlstrdm, R Adolfsson 686Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients showsoverlap of the normal and HD affected ranges but absence of correlation withschizophrenia D C Rubinsztein, J Leggo, S Goodburn, T J Crow, R Lofthouse,L E DeLisi, D E Barton, M A Ferguson-Smith 690Asymmetry and skin pigmentary anomalies in chromosome mosaicism C G Woods,A Bankier, J Curry, L J Sheffield, S F Slaney, K Smith, L Voullaire, D Wellesley 694Genetic epidemiology of single gene defects in Chile R Cruz-Coke, R S Moreno 702Mulvihill-Smith syndrome: case report and review 0 Bartsch, K-D Tympner, E Schwinger,RJ Gorlin 707Familial half cryptic translocation t(9;1 7) A Kohler, J Hain, U Mu7ler 712Homozygosity for a new mutation (lle19-+Met) in the insulin receptor gene in five sibswith familial insulin resistance J Hone, D Accili, L I Al-Gazali, G Lestringant, T Orban,S I Taylor 715Trisomy X in a female member of a family with X linked combined immunodeficiency:implications for carrier diagnosis T Lester, M de Alwis, P A Clark, A M Jones, F Katz,R J Levinsky, C Kinnon 717Autosomal dominant simple microphthalmos E M Vingolo, K Steindl, R Forte,L Zompatori, A lannaccone, A Sciarra, G Del Porto, M R Pannarale 721

Syndrome of the monthCleft hand/foot: clincial and developmental aspects P W Buss 726

Brief papersA cluster of cystic fibrosis mutations in exon 1 7b of the CFTR gene: a site for raremutations B Mercier, W Lissens, G Novelli, L Kalaydjieva, M de Arce, N Kapranov,N Canki Klain, X Estivill, A Palacio, S Cashman, A Savov, M P AudrJzet, B Dallapicolla,I Liebaers, I Que're', 0 Rague'nes, C Verlingue, C Fe'rec 731Diaphragmatic herniae and translocations involving 8q22 in two patients I K Temple,J C K Barber, R S James, D Burge 735An interstitial deletion of chromosome 7(q35) K Fagan, C Kennedy, L Roddick, A Colley 738

Letters to the EditorThe Pallister-Hall syndrome A Sama, J D T Mason, K P Gibbin, I D Young, M Hewitt 740Familial Pallister-Hall syndrome L G Biesecker, K Topf, J M Graham Jr 740"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia:cAtch 22. A common result of 22qll deficiency? A Lipson, B Emanuel, P Colley,K Fagan, D A Driscoll 741Skeletal malformations and polycystic kidney disease A E Turco, B Peissel, S Rossetti,P F Pignatti, E M Padovani, G P Chiaffoni 742

Notices 742

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 10 October 1994 EditorialThe genetic testing of children TM Marteau 743

AnnotationSyndrome of the month I Young, A Wilkie 744

Original articlesGenetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessivedystrophic epidermolysis bullosa and anchoring fibril abnormalities M G S Dunnill, A J Richards,G Milana, F Mollica, D Atherton, I Winship, M Farrall, L Al-Imara, R A J Eady, F M Pope 745Mosaic uniparental disomy in Beckwith-Wiedemann syndrome R E Slatter, M Elliott, K Welham,M Carrera, P N Schofield, E R Maher 749X inactivation patterns in female monozygotic twins and their families E Watkiss, T Webb,G Rysiecki, N Girdler, E Hewett, S Bundey 754Cephalometric analysis of Rapp-Hodgkin syndrome T C Hart, S Kyrkanides 758Phenotypic variation of tuberous sclerosis in a single extended kindred S L Smalley, F Burger,M Smith 761Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in theimmune function in a large Italian pedigree M Kralinovic, L Mestroni, G M Severini, B Pinamonti,F Camerini, A Falaschi, M Giacca 766Osteocraniostenosis A Verloes, F Narcy, B Grattagliano, A-L Delezoide, P Guibaud, J-P Schaaps,M Le Merrer, P Maroteaux 772

Syndrome of the monthAlbrights hereditary osteodystrophy L C Wilson, R C Trembath 779

Clinical practice in medical geneticsThe genetic testing of childrren. Report of a Working Party of the Clinical Genetics Society (UK).Chairman: Dr Angus Clarke 785

Brief papersIntrachromosomal triplication of 1 5ql 1 -ql 3 A A Schinzel, L Brecevic, F Bernasconi, F Binkert,F Berthet, A Wuilloud, W P Robinson 798A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia G Calabrese,P G Franchi, L Stuppia, R Mingarelli, C Rossi, L Ramenghi, M Marino, E Morizio, R Peila,A Antonucci, G Palka 804Down-Turner syndrome: case report and review G J C M Van Buggenhout, B C J Hamel,J CM Trommelen, H Mieloo, D F C M Smeets 807Linkage and mutation analysis in an extended famly with Charcot-Marie-Tooth disease type 1 BE Nelis, V Timmerman, P De Jonghe, L Muylle, J-J Martin, C Van Broeckhoven 811

Short reportChimaerism shown by cytogenetics and DNA polymorphism analysis A J Green, D E Barton,P Jenks, J Pearson, J R W Yates 816

AbstractsMedical genetics: advances in brief 818

Letters to the EditorHuntington's disease in two unrelated Arab kindreds and in an Afghani family resident in SaudiArabia EM Scrimgeour, S A Tahoon, T H Zawawi 819The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular)differential diagnosis B B A De Vries, M F Niermeiler 820Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome J M Saraiva,H C Mota 820

Book reviews 821

822Notices

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 11 November 1994 Original articlesDiagnostic distinction between anencephaly and amnion rupture sequence based on skeletalanalysis J W Keeling, I KjarPulmonary atresia associated with maternal 22ql 1.2 deletion: possible parent of origin effect in theconotruncal anomaly face syndrome L H Seaver, J W Pierpont, R P Erickson, R L Donnerstein,S B CassidyParental origin of Gsa gene mutations in Albright's hereditary osteodystrophy L C Wilson,M E M Oude Luttikhuis, P T Clayton, WD Fraser, R C TrembathPossible role of imprinting in the Turner phenotype C E Chu, M D C Donaldson, C J H Kelnar,P J Smail, S A Greene, W F Paterson, J M ConnorDeletions in the 5' region of dystrophin and resulting phenotypes F Muntoni, P Gobbi, C Sewry,T Sherratt, J Taylor, S K Sandhu, S Abbs, R Roberts, S V Hodgson, M Bobrow, V DubowitzRetinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3loci M A Aldred, P W Teague, M Jay, S Bundey, R M Redmond, B Jay, A C Bird, S S Bhattacharya,A F WrightNeurofibromatosis type 1 in Israel: survey of young adults B Z Garty, A Laor, Y L DanonGenetic study of congenital heart defects in Northern Ireland (1974-1978) E J Hanna, N C Nevin,J NelsonCounselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians,clinical geneticists, and genetic nurses T Marteau, H Drake, M BobrowGenetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families R A Gibson,D Ford, S Jansen, A Savoia, C Havenga, R D Milner, T J de Ravel, R J Cohn, S E Ball, I Roberts,J C Llerena, I Vorechovsky, T Pearson, F Biriandi, S S Hussein, M Murer-Orlando, D F Easton,C G MathewTrinucleotide repeat length and progression of illness in Huntington's disease K Kieburtz,M MacDonald, C Shih, A Feigin, K Steinberg, K Bordwell, C Zimmerman, J Srinidhi,J Sotack, J Gusella, I Shoulson

Syndrome of the monthPyruvate dehydrogenase deficiency G K Brown, L J Otero, M LeGris, R M Brown

Brief papersNon-radioactive detection of 17pl 1 .2 duplication in CMT1 A: a study of 78 patients F Schiavon,M L Mostacciuolo, F Saod, L Merlini, G Siciliano, C Angelini, G A DanieliDuplication of 16q22-qter confirmed by fluorescence in situ hybridisation and molecularanalysis R S Houlston, R M Renshaw, R S James, R Ironton, I K TempleAPC mutation associated with late onset of familial adenomatous polyposis J Smith-Ravin, K Pack,S Hodgson, S K S Toy, R Phillips, W Bodmer

Short reportHigh CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient Ch Daumerie,N Lannoy, J-P Squifflet, G Verellen, Ch Verellen-Dumoulin

Conference reportCulture, kinship and genes A Clarke

AbstractsMedical genetics: advances in brief

Letters to the EditorForensic medicine, PCR, and Bayesian approach F Taroni, C ChampodThe possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndromeM A SabryNo association between dopamine D4 receptor polymorphism and manic depressive illness I P6rezde Castro, P Torres, J Fern6ndez-Piqueras, J Saiz-Ruiz, C Llinares3-M syndrome and intracerebral aneurysms R CM Hennekam, M Limburg, G Pals

823

830

835

840

843

848853

858

864

868

872

875

880

884

888

891

893

895

896

897

897898

Book reviews 899

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from

No 12 December 1994 Review articleRecent advances in the gene map of inherited eye disorders: primary hereditary diseases of theretina, choroid, and vitreous P J Rosenfeld, VA McKusick, J S Amberger, T P Dryja 903

Original articlesClose linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologicallynormal and abnormal families M Bitner-Glindzicz, Y de Kok, D Summers, I Huber, F P M Cremers,H-H Ropers, W Reardon, M E Pembrey, S Malcolm 916X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to theDXS455 VNTR and a new, highly informative microsatellite marker (DXS1 684) N Dahl, F Samson,N S T Thomas, L J Hu, W Gong, G Herman, J Laporte, P Kioschis, A Poustka, J L Mandel 922Genetic heterogeneity in hereditary haemorrhagic telangiectasia M EM Porteous, A Curtis,O Williams, D Marchuk, S S Bhattacharya, J Bum 925Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinicalphenotype KA McAllister, F Lennon, B Bowles-Biesecker, W C McKinnon, E A Helmbold,D S Markel, C E Jackson, A E GuHtmacher, M A Pericak-Vance, D A Marchuk 927Linkage of hereditary haemorrhogic telangiectasia to chromosome 9q34 and evidence for locusheterogeneity P Heutink, T Haitiema, G J Breedveld, B Janssen, L A Sandkuijl, C J M Bontekoe,C J J Westerman, B A Oostra 933Automated analysis of multiplex microsatellites G R Taylor, J S Noble, R F Mueller 937Genetic epidemiology of early onset breast cancer D Eccles, A Marlow, G Royle, A Collins,N E Morton 944The impact of genetic counselling on females in fragile X families G Curtis, N Dennis, J MacPherson 950Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients andtheir familes M A Hannan, D Sigut, M Waghray, G G Gascon 953

Syndrome of the monthSyndactyly, ectodermal dysplasia, and cleft lip/palate J Zlotogora 957

Brief papersAnophthalmia with cleft palate and micrognathia: a new syndrome? S R Phadke, A K Sharma,S S Agarwal 960Two fetuses with Fryns syndrome without diaphragmatic defects K K Wilgenbus, R Engers,G Crombach, F Majewski 962Determination of a new collagen type a2 gene point mutation which causes a Gly640 Cyssubstitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation M Gomez-Lira,A Sangalli, P F Pignatti, M C Digilio, A Giannotti, E Carnevale, M Motfes 965Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus M Ledo,M L Ribeiro da Silva 969Refinement of the chromosomal position of the X linked juvenile retinoschisis gene A A B Bergen,J B ten Brink, L M Bleeker-Wagemakers, M J van Schooneveld 972Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin M Bueno,G Oliv6n, A Jimenez, J M Garagorri, A Sarria, A L Bueno, M Bueno Jr, F J Ramos 976

Short reportAssessment of Yqh translocations J L Fernandez, S Pereira, A Campos, V Goyanes 978

Letters to the EditorMeiotic drive at the myotonic dystrophy locus M Gennarelli, B Dallapiccola, M Baiget, L Martorell,G Novelli 980Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia,peculiar face, and developmental retardation (MIM 273390) S Ohdo, T Sonoda, K-I Ohba 980

Book reviews 981

Notices 982

Index 983

on July 28, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 Decem

ber 1994. Dow

nloaded from