Journal of Medical Genetics January 1993 Vol 30 No 1Anewapproach to prenatal cystic fibrosis carrier screening ZMiedzybrodzka, NNaites, JDean 86 Book reviews 87 Notices 88 on February

Journal of Medical GeneticsJanuary 1993 Vol 30 No 1

Contents

Review articleThe morbid anatomy of the human genome: chromosomal location of mutations causingdisease VA McKusick, J S Amberger

Original articlesThe clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitutionof glycine 997 by serine in the cxl (11) chain of type 11 collagen W G Cole, R K Hall,J G RogersHoloprosencepholy: a family showing dominant inheritance and variable expressionA l Collins, P W Lunt, C Garrett, N R DennisVariability of expression in tuberous sclerosis H Northrup, J W Wheless, T K Bertin, R A LewisParental age, genetic mutation, and cerebral palsy N A Fletcher, J FoleyExclusion of familial dysautonomia from more than 60% of the genome A Blumenfeld,F B Axelrod, J A Trofatter, C Maayan, D E Lucente, S A Slaugenhaupt, C B Liebert, L J Ozelius,J L Haines, X 0 Breakefleld, J F Gusella

Syndrome of the monthIncontinentia pigmenti (Bloch-Sulzberger syndrome) SJ Landy, D Donnai

Technical noteThe rapid analysis of dystrophin gene deletions shows variable electrophoretic mobilityB A Neilan, D A Leigh, B L McDonald

Short reportsThe newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patientand review T I Farag, S A Al-Awadi, MIJMarafe, L Bastaki, S A AI-Othman,F M Mohammed, I S AlSuliman, D S Krishna MurthyLimb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of twoItalian sibs and further confirmation of autosomal recessive inheritance G Camera,G Ferraiolo, D Leo, A Spaziale, S PozzoloMosaicism for duplication 12q (12q13--q24.2) in a dysmorphic male infant J WDixon,T Costa, I E TeshimaReproductive possibilities for balanced translocation (14) carriers in families with partial trisomyof proximal 14q G Valkova, M StefanovaDelayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: anew syndrome? K MehesArthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type ofarthrogryposis C TAR M Schrander-Stumpel, C J Howeler, A B A Reekers,NM A F A De Smet, J G Hall, J-P FrynsHumeroradioulnar synostosis in a patient with lambdoid synostosis T J C Edwards, E A Haan,IJ HumphreyWaardenburg syndrome and myelomeningocele in a family S Chatkupt, S Chatkupt,W G Johnson

AbstractsMedical genetics: advances in brief

Leffers to the EditorAnother example favouring the location of BPES at 3q2 J C Cabral de Almeida, J C LlerenaJr, J B G Neto, M Jung, R R MartinsA new approach to prenatal cystic fibrosis carrier screening Z Miedzybrodzka, N Haites,J Dean

Book reviews

Notices

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Volume 30 Contents

No 1 January 1993 Review articleThe morbid anatomy of the human genome: chromosomal location of mutations causingdisease VA McKusick, J S Amberger 1

Original articlesThe clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitutionof glycine 997 by serine in the otl (11) chain of type 11 collagen W G Cole, R K Hall,J G Rogers 27Holoprosencephaly: a family showing dominant inheritance and variable expressionA L Collins, P W Lunt, C Garreft, N R Dennis 36Variability of expression in tuberous sclerosis H Northrup, J W Wheless, T K Bertin, R A Lewis 41Parental age, genetic mutation, and cerebral palsy N A Fletcher, J Foley 44Exclusion of familial dysautonomia from more than 60% of the genome A Blumenfeld,F B Axelrod, J A Trofatter, C Maayan, D E Lucente, S A Slaugenhaupt, C B Liebert, L J Ozelius,J L Haines, X 0 Breakefield, J F Gusella 47

Syndrome of the monthIncontinentia pigmenti (Bloch-Sulzberger syndrome) SJ Landy, D Donnai 53

Technical noteThe rapid analysis of dystrophin gene deletions shows variable electrophoretic mobilityB A Neilan, D A Leigh, B L McDonald 60

Case reportsThe newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patientand review T / Farag, S A Al-Awadi, M J Marafle, L Bastaki, S A Al-Othman,F M Mohammed, / S AlSuliman, D S Krishna Murthy 62Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of twoItalian sibs and further confirmation of autosomal recessive inheritance G Camera,G Ferraiolo, D Leo, A Spaziale, S Pozzolo 65Mosaicism for duplication 12q (1 2q1 3--q24.2) in a dysmorphic male infant J W Dixon,T Costa, / E Teshima 70Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomyof proximal 14q G Valkova, M Stefanova 73Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: anew syndrome? KMehes 76Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type ofarthrogryposis C T R M Schrander-Stumpel, C J Howeler, A B A Reekers,NM A F A De Smet, J G Hall, J-P Fryns 78Humeroradioulnar synostosis in a patient with lambdoid synostosis TJ C Edwards, EA Haan,IJ Humphrey 81Waardenburg syndrome and myelomeningocele in a family S Chatkupt, S Chatkupt,W G Johnson 83

AbstractsMedical genetics: advances in brief 85

Letters to the EditorAnother example favouring the location of BPES at 3q2 J C Cabral de Almeida, J C LlerenaJr, J B C Neto, M Jung, R R Martins 86A new approach to prenatal cystic fibrosis carrier screening Z Miedzybrodzka, N Naites,J Dean 86

Book reviews 87

Notices 88



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No 2 February 1993 Review articleThe genetics of malignant hyperthermia S P Ball, K J Johnson 89Original articlesThe fragile X syndrome: no evidence for any recent mutations A P T Smits, J C F M Dreesen,J G Post, D F CM Smeets, C de Die-Smulders, T Spaans-van der Bijil, L C P Govaerts,S T Warren, B A Oostra, B A van Oost 94Identification of the FRAXE fragile site in two families ascertained for X linked mentalretardation G A Flynn, M C Hirst, S J L Knight, J N Macpherson, J C K Barber, A V Flannery,K E Davies, V J Buckle 97Imprinting in Albright's hereditary osteodystrophy SJ Davies, H E Hughes 101Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor geneFM Richards, E R Maher, F Latif, M E Phipps, K Tory, M Lush, P A Crossey, B Oostra,K H Gustavson, J Green, G Turner, J R W Yates, WM Linehan, N A Affara, M Lerman, B Zbar,M A Ferguson-Smith 104Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28 J R W Yates,J P Warner, J A Smith, F Deymeer, J-P Azulay, I Hausmanowa-Petrusewicz, J Zaremba,J Borkowska, N A Affara, M A Ferguson-Smith 108On the genetics of mandibular prognathism: analysis of large European noble familiesG Wolff, T F Wienker, H Sander 112A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in aFrench family M D Benson 11, JJulien, J Liepnieks, S Zeldenrust, M D Benson 117A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in aFrench family M D Benson /1, J C Turpin, G Lucotte, S Zeldenrust, B LeChevalier, M D Benson 120Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of thef3-hexosaminidase ac subunit gene D L Harmon, D Gardner-Medwin,, J L Stirling 123Mutation analysis in Turkish phenylketonuria patients M Ozgu4, i Ozalp, T Coikun, E Yilmaz,H Erdem, 5 Ayter 129Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus forschizophrenia at Xp2l or an effect of the dystrophin gene in the brain? M Zatz, H Vallada,M S Melo, M R Passos-Bueno, A H G Vieira, M Vainzof, M Gill, V Gentil 131A family showing no evidence of linkage between the ataxia telangiectasia gene andchromosome 1 1 q22-23 D Hemandez, CM McConville, M Stacey, C G Woods, M M Brown,P Shuff, G Rysiecki A M R Taylor 135Medical genetics around the worldMolecular diagnosis of some common genetic diseases in Russia and the former USSR: presentand future VS Baranov 141Genetics in clinical practiceThe specialty of clinical genetics: European Society of Human Genetics survey R Harris, J A Rhind 147Technical noteRapid and efficient PCR/Styl test for identification of common mutation R408W inphenylketonuria patients T Ivaschenko, VS Baranov 153Short reportsA lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation:Blomstrand chondrodysplasia? / D Young, J M Zuccollo, NJ Broderick 155Brachymorphism-onychodysplasia-dysphalangism syndrome A Verloes, D Bonneau, C GuidiM Berthier, D Oriot, L Van Maldergem, L Koulischer 158Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte andCVS DNA A MacKenzie, A Besner, N Roy 162Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of ahomozygous S549N mutation in an inbred Pakistani family A Curtis, RJ Richardson,J Boohene, A Jackson, R Nelson, S S Bhattacharya 164Complex chromosome rearrangement with ankyloblepharon filiforme adnatum B G Kousseff,P Papenhausen, Y-P Essig, M P Torres 167Chromosome 20 long arm deletion in an elderly malformed man F Shabtai E Ben-Sasson,S Arieli, J Grinblat 171AbstractsMedical genetics: advances in brief 174Letter to the EditorHydrocephalus in Hadju-Cheney syndrome L C Ades, L L Morris, EA Haan 175Book reviews 176



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No 3 March 1993 Original articlesX chromosome inactivation and the diagnosis of X linked disease in females R M Brown,G K BrownAge at onset in Huntington's disease and methylation at D4S95 W Reik, E R Maher,P J Morrison, A E Harding, S A SimpsonA study of DNA methylation in myotonic dystrophy D J Shaw, S Chaudhary, S A Rundle,S Crow, J D Brook, P S Harper, H G HarleyDirect versus indirect molecular diagnosis of fragile X mental retardation in 40 German familiesat risk 0 Knobloch, F Pelz, U Wick, D L Nelson, B ZoilMutations of the androgen receptor gene identified in perineal hypospadias J A Batch,B A J Evans, / A Hughes, M N PattersonMapping of the X linked form of hyper IgM syndrome (HIGM1) M Padayachee, R J Levinsky,C Kinnon, A Finn, C McKeown, C Feighery, L D Notarangelo, R W Hendriks, A P Read,S MalcolmAlternative splicing of dystrophin mRNA complicates carrier determination: report of a DMDfamily U Lenk, S Demuth, U Kraft, R Hanke, A SpeerCarrier detection of Hunter syndrome (MPS 11) by biochemical and DNA techniques in familiesat risk W Schroder, l Petruschka, M Wehnert, M Zschiesche, G Seidlitz, J J Hopwood,F H HerrmannRefining the genetic location of the gene for X linked hydrocephalus within Xq28 M Jouet,E Feldman, J Yates, D Donnai, J Paterson, D Siggers, S KenwrickA 5' splice site mutation in fucosidosis M Williamson, H Cragg, J Grant, K Kretz, J O'Brien,P J Willems, E Young, B WinchesterIdentification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSCI)M Nellist, P T Brook-Carter, J M Connor, D J Kwiatkowski P Johnson, J R SampsonMolecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification ofa new PKU mutation I Dianzani, C Camaschella, G Saglio, G B Ferrero, S Ramus, A Ponzone,R G H CoffonGenetic background of clinical homogeneity of phenylketonuria in Poland J Jaruzelska,R Matuszak, S Lyonnet, F Rey, J Rey, J Filipowicz, K Borski A MunnichHereditary anaemias in Portugal: epidemiology, public health significance, and controlM C Martins, G Olim, J Melo, H A Magalhaes, M 0 RodriguesFilipino flp thalassaemia: a high Hb A2 h6o thalassaemia resulting from a large deletion of the5' /1 globin gene region P I Motum, A Kearney, T J Hamilton, R J Trent

Short reportsHypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facialfeatures: confirmation of a distinct entity? D Soekarman, J P FrynsInterstitial deletion of chromosome 1 Oq23: a new case and review S A Farrell,W Szymonowicz, G Chow, A M SummersA case of deletion 14(q22.1 -*q22.3) associated with anophthalmia and pituitaryabnormalities J Elliott, E L Maltby, B ReynoldsUsher syndrome type associated with bronchiectasis and immotile nasal cilia in twobrothers D Bonneau, F Raymond, C Kremer, J-M Klossek, J Kaplan, F PatteParental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardationsyndrome (Young-Simpson syndrome) D T Bonthron, KM Barlow, A M Burt, D G D Barr

Conference reportWorkshop of the Commission of the European Communities on Ethics of Human GenomeAnalysis: Survey of the European Discussion 0 de Dinechin, R Harris, M Kettner, l Koch,E Zwierlein

AbstractsMedical genetics: advances in brief

Letters to the EditorAphasia, deafness, or mental retardation A G GordonReply G N WilsonSex differences in the location of a spina bifida lesion H S Cuckle, NJ Wald, R Althouse

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No 4 April 1993 Original articlesPrenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers J Hastbacka,R Salonen, P Laurila, A de /a Chapelle, I KaitilaPossible X linked congenital mitochondrial cardiomyopathy in three families K H Orstavik,F Skj6rten, M Hellebostad, P H6ga, A LangsletSix DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationshipand an example of their use for identifying affected relatives of patients with familialhypercholesterolaemia S Humphries, L King-Underwood, V Gudnason, M Seed, S Delaffre,V Clavey, J-C FruchartGaucher's disease in the United Kingdom: screening non-Jewish patients for the two commonmutations A J Walley, M L Barth, / Ellis, A H Fensom, A HarrisPhenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in theoffspring of a healthy homozygote S Kleiman, L Vanagaite, J Bernstein, G Schwartz,N Brand, A Elitzur, S L C Woo, Y ShilohOnset symptoms in 510 patients with Huntington's disease l Di Maio, F SquitieriG Napolitano, G Campanella, J A Trofaffer, P M ConneallySuicide risk in Huntington's disease L Di Maio, F Squitieri; G Napolitano, G Campanella,J A Trofaffer, PM ConneallyPolydactyly: a study of a five generation Indian family U Radhakrishna, A S Multani;J V Solanki; V C Shah, N J ChinoyCharacterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation ofvery close linkage to the retinoschisis disease gene C Oudet, C Weber, J Kaplan, B Segues,M-F Croqueffe, E 0 Roman, A HanauerAn improved, non-isotopic method of screening cells from patients with abnormalities of sexualdifferentiation for Y chromosomal DNA content M Wiff, K Michalczak, A Latos-Bielenska,J Jaruzelska, / Kuczora, M LopezThe dopamine D3 receptor gene: no association with bipolar affective disorder S Shaikh,D Ball, N Craddock, D Castle, N Hunt, R Mant, M Owen, D Collier, M Gill

Syndrome of the monthOtopalatodigital syndrome type 11 S E Holder, R M Winter

Short reportsA cytogenetic survey in Menkes disease: implications for the detection of chromosomalrearrangements in X linked disorders N Tommerup, Z Timer, T T0nnesen, N HomPrevalence of cystic fibrosis mutations in the Grampian region of ScotlandZ H Miedzybrodzka, J C S Dean, G Russell, J A R Friend, K F Kelly, N E HaitesAbsence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosisA King, H Houlden, J Hardy, R Lane, A Chancellor, J de BellerocheProfound mental retardation, characteristic facies with midfacial hypoplasia and prematurefrontotemporal balding, muscular hypotrophy, and small patellae in two unrelated malepatients J-P Fryns, P Thiry, J Geutjens, E Smeets, L Vinken, H Van den BergheShort limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant ofEllis-van Creveld syndrome? J-P Fryns, P MoermanConsanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfallsin the Romano-Ward syndrome W Reardon, N Lewis, H E HughesCoarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in threegenerations S Gerboni, G Sabatino, R Mingarelli, B DallapiccolaSimultaneous de novo interstitial deletion of 1 6q21 and intercalary duplication of 1 9q in aretarded infant with minor dysmorphic features U Trautmann, R A Pfeiffer, U Seufert-Satomi;H U Tietze

AbstractsAbstracts of the British Medical Genetics Conference held in Nottingham on 23 to 25September 1992 (sponsored by the Clinical Genetics Society and the Clinical MolecularGenetics Society)Medical genetics: advances in brief

Spring book reviews

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No 5 May 1993 Original articlesParental allele specific methylation of the human insulin-like growth factor 11 gene andBeckwith-Wiedemann syndrome H Schneid, D Seurin, M-P Vazquez, M Gourmelen, S Cabrol,YLe BoucA genetic study of neurofibromatosis type 1 (NFl) in south-western Ontario. 11 A PCR basedapproach to molecular and prenatal diagnosis using linkage D / Rodenhiser, PJ Ainsworth,M B Coulter-Mackie, S M Singh, J H JungTwo cases of 5q deletions in patients with familial adenomatous polyposis: possible link withCaroli's disease S V Hodgson, A S Coonar, PJ V Hanson, S Cottrell, P N Scriven, T Jones,P R Hawley, M L WilkinsonA T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping andresults in Ehlers-Danlos syndrome type IV J Lloyd, P Narcisi, A Richards, FM PopeX linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus D Bonneau,J-M Rozet, C Bulteau, M Berthier, R Mettey, R Gil, A Munnich, M Le MerrerEvidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle musculardystrophy following linkage analysis with 1 5q probes in Brazilian families M R Passos-Bueno,/ Richard, M Vainzof, F Fougerousse, J Weissenbach, 0 Broux, D Cohen, J Akiyama,S K N Marie, A A Carvalho, L Guilherme, J Kalil, A M Tsanaclis, M Zatz, J S BeckmannFamilial amyloidotic polyneuropathy in Sweden: a pedigree analysis U Drugge, R Andersson,F Chizari, M Danielsson, G Holmgren, 0 Sandgren, A SousaLinkage analysis of infantile pyloric stenosis and markers from chromosome 9ql 1-q33: noevidence for a major gene in this candidate region E Chung, R Coffey, K Parker, P Tam,M E Pembrey, R M GardinerFrequency and clinical significance of erythrocyte genetic abnormalities in Omanis J M White,B S Christie, D Nam, S Daar, D R HiggsComparison of genotype and intellectual phenotype in untreated PKU patients S J Ramus,S M Forrest, D B Pitt, J A Saleeba, R G H CottonPortraits in medical geneticsGeorge Huntington: the man behind the eponym N Durbach, M R HaydenGenetics in clinical practiceGuidelines for the diagnosis of fragile X syndrome B A Oostra, P B Jacky, W T Brown,F RousseauShort reportsElucidation of the centromere involvement in an inversion (1 3) by fluorescent in situhybridisation P L Gordon, J D Dalton, P R Martens, A T Tharapel, R S WilroyA balanced whole arm reciprocal translocation resulting in three different adverse pregnancyoutcomes P J Cooper, C Towe, J A CrollaMolecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newbornwith bilateral cystic kidneys detected prenatally and multiple skeletal malformationsA E Turco, EM Padovani G P Chiaffoni, B Peissel, S Rossetti, A Marcolongo, L Gammaro,G Maschio, P F PignaftiPoland anomaly with contralateral ulnar ray defect C V E Powell, R C Coombs, TJ DavidIris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome orNoonan syndrome? A VerloesSyndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenitalhypothyroidism / M Buntincx, B Van Overmeire, K Desager, J Van HauwaertICF syndrome with variable expression in sibs G Gimell¢ P Varone, A Pezzolo, M Lerone, V PistoiaTrisomy 9 mosaicism in two girls with multiple congenital malformations and mentalretardation C Stoll, D Chognot, A Halb, J C luckelProbable de novo 1 7q duplication (ql 1 .2-q21.1): a newly recognised chromosomal syndromein a child with Klinefelter's syndrome A M Butt, D Mehta, J A Goodeve, F A FlinterAcrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novoreciprocal translocation involving the short arm of chromosome 1 and the long arm ofchromosome 18: 46,XX,t(1;1 8)(p3l ;ql 1) J Ward, E Vieto, D Lee, G ArosemenoConference reportRetinoblastoma: a possible link with low level radiation J A Morris, J K Cowell, C A Stiller, A BarrattAbstractsMedical genetics: advances in briefLetters to the EditorContinuation of a case report G E Holmes, R N Schimke, K Goertz, L Mattioli W RichardsonAbsent fibula and craniosynostosis: a 25 year follow up R B LowryMild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for aframeshift mutation in the regulatory domain of the CFTR W Lissens, S Desmyttere,M Bonduelle, I Dab, I Liebaers, B Mercier, M P Audrezet, C FerecThe combinations of the sexes of familial cases of neural tube defect W H JamesBook reviews

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No 6 June 1993 AnnotationsLow segregation ratios in autosomal recessive disorders S Bundey, I D Young 449Isolation of the defective gene in X linked agammaglobulinaemia D Vetrie 452

Original articlesPopulation studies of the fragile X: a molecular approach P A Jacobs, H Bullman,J Macpherson, S Youings, V Rooney, A Watson, N R Dennis 454Complications of the naevoid basal cell carcinoma syndrome: results of a population basedstudy D G R Evans, EJ Ladusans, S Rimmer, L D Bumell, N Thakker, P A Farndon 460Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterindeficiency / Dianzani, D W Howells, A Ponzone, J A Saleeba, PM Smooker, R G H Cotton 465A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineousparents L / Al-Gazali M Khalil, K Devadas 470RFLP analysis for APP 717 mutations associated with Alzheimer's disease S R Zeldenrust,J Murrell, M Farlow, B Gheffi, A D Roses, M D Benson 476Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found innon-Jewish Tay-Sachs disease patients from the British Isles E C Landels, P M Green, / H Ellis,A H Fensom, M M Kaback, J Lim-Steele, K Zeiger, N Levy, M Bobrow 479Three patients with ring (X) chromosomes and a severe phenotype N R Dennis, A L Collins,J A Crolla, A E Cockwell, A M Fisher, P A Jacobs 482Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease onchromosome 3p25-26 M A Pericak-Vance, KJ Nunes, E Whisenant, D B Loeb, K W Small,J M Staiich, J B Rimmler, L H Yamaoka, D / Smith, H A Drabkin, J M Vance 487Osteogenesis imperfecta type Ill: mutations in the type collagen structural genes, COll Aland COll A2, are not necessarily responsible G A Wallis, B Sykes, P H Byers, C G Mathew,D Viljoen, P Beighton 492Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased Xinactivation, resulting in haemophilia R Coleman, S A Genet, J / Harper, A 0 M Wilkie 497Frequency of AF508 in a Mexican sample of cystic fibrosis patients L Orozco, M Salcedo,J L Lezana, M Chavez, H Valdez, M Moreno, A Carnevale 501A large family with patent ductus arteriosus and unusual face H R Davidson 503

Portraits in medical geneticsEdward Meryon (1809-1880) and muscular dystrophy A E H Emery, M L H Emery 506

Short reportsA new restriction fragment length polymorphism at the DXSl 01 locus allows carrier detection ina family with X linked agammaglobulinaemia A Sweatman, R Lovering, H Middleton-Price,A Jones, G Morgan, R Levinsky, C Kinnon 512Cerebellar ataxia and ectodermal dysplasia in brothers M Baraitser, W Reardon, A McShane,J Wilson 515Deletion 9p and sex reversal C P Bennett, Z Docherty, S A Robb, P Ramani, J R Hawkins,D Grant 518Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-+7qterN Morichon-Delvallez, A-L Delezoide, M Vekemans 521Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midlinegroove: a new syndrome? C EM de Die-Smulders, R P Droog, M van Dijk, J P Fryns 525Congenital nystagmus cosegregating with a balanced 7;15 translocation M A Paffon,S Jeffery, N Lee, C Hogg 526Duplication of chromosome 15 in the region 1 5ql 1-13 in a patient with developmental delayand ataxia with similarities to Angelman syndrome J Clayton-Smith, T Webb, XJ Cheng,M E Pembrey, S Malcolm 529


Letters to the EditorMolecular diagnosis of myotonic dystrophy RM Winter 533Reply G K Suthers, K E Davies, S M Huson 533Weyers' ulnar ray/oligodactyly syndrome M S Lungarotti A Calabro 533The contribution of genetic factors to the pathogenesis of type (insulin dependent) diabetesmellitus FJ Grundbacher 533

Book reviews 536

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No 7 July 1993 EditorialPsychosocial genetics: an emerging scientific discipline P S Harper 537

Original articlesWhat young people think and do when the option for cystic fibrosis carrier testing isavailable J Mitchell, C R Scriver, C L Clow, F Kaplan 538Prenatal screening for cystic fibrosis: psychological effects on carriers and their partnersM E Mennie, M E Compton, A Gilfillan, WA Liston, I Pullen, D A Whyte, D J H Brock 543Five year study of prenatal testing for Huntington's disease: demand, attitudes, andpsychological assessment S Adam, S Wiggins, P Whyte, M Bloch, M H K Shokeir, H Soltan,W Meschino, A Summers, 0 Suchowersky, J P Welch, M Huggins, J Theilmann, M R Hayden 549Perception of predictive testing for Huntington's disease by young women: preferring uncertaintyto certainty? M Decruyenaere, G Evers-Kiebooms, H Van den Berghe 557Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophyE P Parsons, A J Clarke 562Neurofibromatosis type 1 (NFl): knowledge, experience, and reproductive decisions of affectedpatients and families CM Benjamin, A Colley, D Donnai H Kingston, R Harris,l Kerzin-Storrar 567Psychosocial issues raised by a familial ovarian cancer register J Green, F Murton, H Statham 575'Inside-out', back-to-front: a model for clinical population genetic screening D Shickle,I Harvey 580Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture andrecurrence risk K Zerres, S Rudnik-Schoneborn, F Deget, and members of the German workinggroup on paediatric nephrology (Arbeitsgemeinschaft fir Padiafrische Nephrologie) 583Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance ofpreclinical diagnosis, and fitness S Eggers, M R Passos-Bueno, M Zatz 589An epidemiological study of isolated split hand/foot in Hungary, 1975-1984 A E Czeizel,M Vit6z, lKodal WLenz 593

Short reportsSecond polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidyU Miller, J L Weber, P Berry, K G Kupke 597Trisomy 1 Oqter confirmed by in situ hybridisation V Brisciol, G Floridia, E Ross, A Selicomi,F Lalaffa, O Zuffardi 601Deletion of chromosome 2 (p1I-p1 3): case report and review V P Prasher, V H R Krishnan,D J Clarke, C T Maliszewska, J A Corbeft 604Two sibs with unbalanced translocations in the Waardenburg gene region L I Al Gazali,R Quaife 607Mild phenotypic manifestation of a 7pl 5.3p2l.2 deletion C Wang, S Maynard, T W Glover,L G Biesecker 610Extra G positive band on the long arm of chromosome 9 L A Knight, G M Soon, M Tan 613Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormalskin pigmentation E Bocian, T Mazurczak, E Bulawa, H Stanczak, G Rowicka 614Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1 A E Shrimpton,R Davidson, N MacDonald, D J H Brock 616Dyskeratosis congenita: three additional families show linkage to a locus in Xq28R Arngrimsson, I Dokal, L Luzzaffo, J M Connor 618


Letters to the EditorCystic fibrosis and deafness J C Llerena Jr, W Degrave, A de Miranda, P Suffys 621Approaches to prenatal cystic fibrosis carrier screening D Brock 621Reply Z Miedzybrodzka, N Haites, J Dean 621Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTRgene T Bienvenu, C Beldjord, N Fonknechten, J C Kaplan, G Lenoir 621Cutis laxa and the Costello syndrome M A Paffon, M Baraitser 622

Book reviews 623

Notices 624



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No 8 August 1993 Review articleForensic medicine and the polymerase chain reaction technique R Decorte, J-J Cassiman 625

AnnotationAssociation versus linkage studies in psychosis genetics M M Nothen, P Propping, R Fimmers 634

CommentAssociation and linkage: complementary strategies for complex disorders M J Owen,P McGuF/ln 638

Original articlesGenetic transmission of Alzheimer's disease among families in a Dutch population basedstudy CM van Duijn, L A Farrer, L A Cupples, A Hofman 640Origins of the fragile X syndrome mutation M C Hirst, S J L Knight, Z Christodoulou,P K Grewal, J P Fryns, K E Davies 647Is skewed X inactivation responsible for symptoms in female carriers foradrenoleucodystrophy? E Watkiss, T Webb, S Bundey 651A new de novo mutation (Al 1 3T) in HMG box of the SRY gene leads to XY gonadaldysgenesis Y- T Zeng, Z-R Ren, M-L Zhang, Y Huang, F- Y Zeng, S-Z Huang 655Sequence variations in the first exon of ot-galactosidase A J P Davies, B G Winchester,S Malcolm 658Classification of microphthalmos and coloboma M Warburg 664Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophyE Hildes, H K Jacobs, A Cameron, S S Seshia, F Booth, J A Evans, K Wrogemann,C R Greenberg 670Evaluation of molecular genetic diagnosis in the management of familial adenomatouspolyposis coli: a population based study E R Maher, D E Barton, R Slatter, D J Koch,M H Jones, H Nagase, S J Payne, S J Charles, A T Moore, Y Nakamura, M A Ferguson-Smith 675Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesisto UV irradiation A R Lehmann, A F Thompson, S A Harcourt, M Stefanini, P G Norris 679

Brief papersCampomelic dysplasia: evidence of autosomal dominant inheritance S A Lynch, M L Gaunt,A M B Minford 683A three generation family with fibrodysplasia ossificans progressiva J M Connor, H Skirton,P W Lunt 687The substitution of glycine 661 by arginine in type Ill collagen produces mutant molecules withdifferent thermal stabilities and causes Ehlers-Danlos syndrome type IV A Richards, P Narcisi,J Lloyd, C Ferguson, FM Pope 690A new form of familial ataxia, deafness, and mental retardation W Reardon, J Wilson,N Cavanagh, M Baraitser 694A new stable human dicentric chromosome, tdic(4;21)(pl 6;q22), in a woman with first trimesterabortion F Wang, YLi 696A new case of partial trisomy 19q (q13.2-*qter) owing to an unusual maternaltranslocation D Valerio, F Lavorgna, M Scalona, A Conte 697Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC andLADD syndromes D Lacombe, F Serville, D Marchand, J Battin 700Dominant carpotarsal osteochondromatosis P Maroteaux, M Le Merrer, H Bensahel,P Freisinger 704


Letters to the EditorExcess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmedM M Nothen, S Cichon, P Propping, R Fimmers, S G Schwab, D B Wildenauer 708Association between schizophrenia and homozygosity at the dopamine D3 receptor geneR Morell 708Reply M J Owen, J Williams, R Mont, P Asherson, P McGuffln, M-A Crocq, T Wienker 708Severity of chest disease in CF patients in relation to their genotypes G E Packe,Z H Miedzybrodzka, J C S Dean 709Reply L N Al-Jader, H C Ryley, S Maguire, G Owen, S Elborn, M C Goodchild 709

Book reviews 710



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No 9 September 1993 Review articleMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersN Tommerup 713

Original articlesIntegrated study of 100 patients with Xp2l linked muscular dystrophy using clinical, genetic,immunochemical, and histopathological data. Part 1. Trends across the clinical groupsL V B Nicholson, M A Johnson, KM D Bushby, D Gardner-Medwin, A Curtis, H B Ginjoar,J T den Dunnen, J L Welch, T J Butler, E Bakker, G-J B van Ommen, J B Harris 728Integrated study of 100 patients with Xp2l linked muscular dystrophy using clinical, genetic,immunochemical, and histopathological data. Part 2. Correlations within individual patientsL V B Nicholson, M A Johnson, KM D Bushby, D Gardner-Medwin, A Curtis, H B Ginjaar,J T den Dunnen, J L Welch, T J Butler, E Bakker, G-J B van Ommen, J B Harris 737Integrated study of 1 00 patients with Xp2l linked muscular dystrophy using clinical, genetic,immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosisL V B Nicholson, M A Johnson, K M D Bushby, D Gardner-Medwin, A Curtis, H B Ginjaar,J T den Dunnen, J L Welch, T J Butler, E Bakker, G-J B van Ommen, J B Harris 745Epidermal mosaicism and Blaschko's lines C Moss, S Larkins, M Stacey, A Blight,PA Famdon, E V Davison 752Uniparental disomy explains the occurrence of the Angelman or Proder-Willi syndrome inpatients with an additional small inv dup(1 5) chromosome W P Robinson, J Wagstaff,F Bemasconi, C Baccichefft, L Artifoni, E Franzon, l Suslak, L-Y Shih, H Aviv, A A Schinzel 756Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeL B A de Vries, J-P Fryns, M G Butler, F Canziani, E Wesby-van Swaay, J 0 van Hemel,B A Oostra, D J J Halley, M F Niermeijer 761Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalitiesP A Clarkson, H R Davies, D M Williams, R Chaudhary, I A Hughes, M N Patterson 767Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage andassociation studies G M Vintiner, K K Lo, S E Holder, R M Winter, S Malcolm 773

Syndrome of the monthNager acrofacial dysostosis M T McDonald, J L Gorski 779

Brief papersHypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism'at amniocentesis D Jenkins, K Martin, I D Young 783Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a malefetus K Suzumor, M Yamauchi, N Seki, I Kondo, T-A Hori 785Congenital heart malformation in Yunis-Varon syndrome L C Ades, L L Morris, M Richardson,C Pearson, E A Haan 788Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a newrecessive syndrome? A Seres-Santamaria, J L Arimany, F Mun,iz 793


Letters to the EditorMale infertility as the only presenting sign of cystic fibrosis when homozygous for the mildmutation Ri 17H T Bienvenu, C Beldjord, M Adiiman, J C Kaplan 797Limb/pelvis/uterus-hypoplasia/aplasia syndrome A S Teebi 797Molecular characterisation of 13 thalassaemia heterozygotes in Brazil C S B Martins,A S Ramalho, M F Sonat, M S Gonfalves, F F Costa 797Autozygosity mapping, complex consanguinity, and autosomal recessive disordersR F Mueller, D T Bishop 798

Book reviews 799

Notices 800



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No 10 October 1993 EditorialCATCH 22 JGHaII 801

Review articleDiGeorge syndrome: an historical review of clinical and cytogenetic features F Greenberg 803

Original articlesMicrodeletions of chromosomal region 22qll in patients with congenital conotruncal cardiacdefects E Goldmuntz, D Driscoll, M L Budarf, E H Zackai, D M McDonald-McGinn,J A Biegel, B S Emanuel 807Prevalence of 22qll microdeletions in DiGeorge and velocardiofacial syndromes: implicationsfor genetic counselling and prenatal diagnosis D A Driscoll, J Salvin, B Sellinger, M L Budarf,D M McDonald-McGinn, E H Zackai, B S Emanuel 813Isolation of a new marker and conserved sequences close to the DiGeorge syndrome markerHP500 (D22S1 34) R Wadey, S Daw, A Wickremasinghe, C Roberts, D Wilson, J Goodship,J Burn, S Halford, P J Scambler 818Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22qllJ Burn, A Takao, D Wilson, / Cross, K Momma, R Wadey, P Scambler, J Goodship 822Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotypeS E Holder, R M Winter, S Kamath, P J Scambler 825High resolution mapping of interstitial long arm deletions of chromosome 1 6: relationship tophenotype D F Callen, H Eyre, S Lane, Y Shen, / Hansmann, N Spinner, E Zackai,D McDonald-McGinn, S Schuffenhauer, J Wauters, M-N Van Thienen, B Van Roy,G R Sutherland, E A Haan 828CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patienthomozygous for the nonsense mutation R553X K Will, J Reiss, M Dean, M Schlosser,R Slomski J Schmidtke, M Stuhrmann 833Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implicationsfor the mapping of X linked ocular albinism A Meindl, D Hosenfeld, WBrkl,S Schuffenhauer, J Jenderny, A Bacskulin, H-C Oppermann, C Swensson, P Bouloux, T Meitinger 838Genetic heterogeneity of Usher syndrome type 11 S Pieke Dahl, WJ Kimberling, M B Gorin,M D Weston, J M R Furman, A Pikus, C Moller 843Upper and lower neural tube defects: an alternate hypothesis B H Garabedian, F C Fraser 849

Syndrome of the monthDiGeorge syndrome: part of CATCH 22 D I Wilson, J Burn, P Scambler, J Goodship 852

Medical genetics around the worldDisease gene mapping in isolated human populations: the example of FinlandA de Ia Chapelle 857

Brief papersMapping of a gene for non-specific X linked mental retardation: evidence for linkage tochromosomal region Xp2l.1-Xp22.3 L Koz6k, P Chiurazzi, M Genuardi, M G Pomponi,M Zollino, G Neri 866Orofaciodigital syndrome type Ill in two sibs R A Smith, D Gardner-Medwin 870Sex linked valvular dysplasia R A Newbury-Ecob, J M Zuccollo, N Rutter, I D Young 873Airway abnormalities in Jarcho-Levin syndrome: a report of two cases M Schulman,M T Gonzalez, M R Bye 875Long survival of a patient with Marshall-Smith syndrome without respiratory complicationsD Sperli, D Concolino, C Barbato, P Strisciuglio, G Andria 877Prenatal diagnosis of a giant intracranial teratoma associated with pulmonary hypoplasiaL K Weyerts, V Catanzarite, M C Jones, A Mendoza 880

Short reportSevere developmental delay and multiple strawberry naevi: a new syndrome? C J Upton,I D Young 883


Letters to the EditorChromosome abnormalities in Williams-Beuren syndrome A Gosch, R Pankau 886Counselling pitfalls in Romano-Ward syndrome J C S Dean, S Cross, K Jennings 886

Book reviews 887



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No 11 November 1993 Review articleThe glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomalenzyme PK Mistry, TM Cox 889

Original articlesMolecular mechanisms in Angelman syndrome: a survey of 93 patients C-TJ Chan,J Clayton-Smith, X-J Cheng, J Buxton, T Webb, M E Pembrey, S Malcolm 895Development and validation of laboratory procedures for preimplantation diagnosis ofDuchenne muscular dystrophy C Holding, D Bentley, R Roberts, M Bobrow, C Mathew 903Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) inthe Spanish population B Peral, J L San Mill6n, C Hemarndez, A Valero, G M Lathrop,J S Beckmann, F Moreno 910Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)M C Koch, K Ricker, M Ofto, F Wolf, B Zoll, C Lorenz, K Steinmeyer, TJ Jentsch 914Chromosomal localisation of a gene(s) for Turner stigmata on Yp T Ogata, C Tyler-Smith,S Purvis-Smith, G Turner 918Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci Y Zhang,R McMahon, S J Charles, J S Green, A T Moore, D E Barton, J R W Yates 923Types, stability, and phenotypic consequences of chromosome rearrangements leading tointerstitial telomeric sequences E Rossi G Floridia, M Casali, C Danesino, G Chiumello,F Bernardi I Magnani, L Papi M Mura, 0 Zuffardi 926Diagnostic criteria and genetics of the PEHO syndrome M Somer 932Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuousspectrum M-L Martinez-Frias, E Bermejo, M Urioste, H Huertas, I Arroyo 937Neural tube defects: a survey of lesion descriptions made by different Europeanpathologists H Dolk, M J Seller 942Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndromeJ C S Dean, S Cross, K Jennings 947Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 regionof the human dystrophin gene U Lenk, R Hanke, U Kraft, K Grade, I Grunewald, A Speer 951Dystrophin analysis in idiopathic dilated cardiomyopathy V V Michels, G M Pastores,P P Moll, D J Driscoll, F A Miller, J C Burneff, R J Rodeheffer, J A Ta/ik, A H Beggs,L M Kunkel, S N Thibodeau 955

Brief papersSex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocaltranslocation t(9; 11)(pl l.2;pl 5.5) N Tommerup, C A Brandt, S Pedersen, L Bolund, J Kamper 958Epidermal naevi and bullous aplasia cutis congenita in a neonate J S Fryburg, K E Greer 962Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(1 8) mosaicism toher daughter, resulting in a 46,XX,r(1 8) karyotype J Jenderny, A Caliebe, C Beyer, W Grote 96446,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious pubertyEJirvela, M K Salo, P Santavuori, R K Salonen 966

Short reportsX linked recessive thrombocytopenia H H M Knox-Macaulay, L Bashawr, K E Davies 968Pseudotrisomy 13 and autosomal recessive holoprosencephaly M J Seller, L S Chitty,H Dunbar 970


Letters to the EditorSkeletal malformations and polycystic kidney disease R M Winter 973A report on CF carrier frequency among men with infertility owing to congenital absence ofthe vas deferens C Williams, E S Mayall, R Williamson, A Hirsh, H Cookson 973

Book reviews 973

Notices 974



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No 12 December 1993 EditorialA specific mutation for Huntington's disease P 5 Harper 975

Review articleDynamic mutations on the move G R Sutherland, R / Richards 978

Original articlesGametic but not somatic instability of CAG repeat length in Huntington's diseaseM E MacDonald, G Barnes, J Srinidhi, M P Duyao, CM Ambrose, R H Myers, J Gray,P M Conneally, A Young, J Penney, / Shoulson, Z Hollingsworth, W Koroshetz, E Bird,J P Vonsattel, E Bonilla, C Moscowitz, G Penchaszadeh, L Brzustowicz, J Alvir, J BickhamConde, J-H Cha, L Dure, F Gomez, M Ramos-Arroyo, J Sanchez-Ramos, S R Snodgrass,M de Young, N S Wexler, H MacFarlane, M A Anderson, B Jenkins, J F Gusella 982Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibsof sporadic cases Y P Goldberg, S E Andrew, J Theilmann, B Kremer, F Squitieri, H Telenius,J D Brown, M R Hayden 987Molecular analysis of late onset Huntington's disease B Kremer, F Squitieri, H Telenius,S E Andrew, J Theilmann, N Spence, Y P Goldberg, M R Hayden 991Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instabilityextending to within the normal size range K E De Rooil, P A M De Koning Gans,M / Skraastad, R D M Belfroid, M Vegter- Van Der Vlis, R A C Roos, E Bakker,G-J B Van Ommen, J T Den Dunnen, M losekoot 996A study of the Huntington's disease associated trinucleotide repeat in the Scottishpopulation L H Barron, J P Warner, M Porteous, S Holloway, S Simpson, R Davidson,D J H Brock 1003Mutation size and age at onset in Huntington's disease D Craufurd, A Dodge 1008Identification of an expanded CAG repeat in the Huntington's disease gene (IT1 5) in a familyreported to have benign hereditary chorea J C MacMillan, P J Morrison, N C Nevin,D J Show, P S Harper, 0 WJ Quarrell, R G Snell 1012Huntington's disease in Grampian region: correlation of the CAG repeat number and the ageof onset of the disease S A Simpson, M J Davidson, L H Barron 1014Significant linkage disequilibrium between the Huntington's disease locus and markers at lociD4S1 0, D4S95, and D4S1 1 1 in Northern Ireland P J Morrison, CA Graham, N C Nevin 1018Presymptomatic testing for Huntington's disease: a world wide survey The World Federationof Neurology Research Group on Huntington's Disease 1020Attitudes of neurologists, psychiatrists, and psychotherapists towards predictive testing forHuntington's disease in Germany U Thies, B Bockel, V Bochdalofsky 1023Ethical and social issues in presymptomatic testing for Huntington's disease: a EuropeanCommunity collaborative study European Community Huntington's Disease CollaborativeStudy Group 1028

Clinical practice in medical geneticsPredictive testing for Huntington's disease: after the gene S A Simpson, A E Harding, onbehalf of the United Kingdom Huntington's Disease Prediction Consortium 1036

Conference report1 5th International World Federation of Neurology Workshop on Huntington's Disease,31 August-3 September 1993, Boston, Massachusetts, USA J C MacMillan, N P Quinn 1039

Letters to the EditorGeorge Huntington: the man behind the eponym R M F Van der Weiden 1042DNA storage and duplicate sampling: lessons learnt from testing for Huntington's diseaseP J Morrison, C A Graham, N C Nevin 1042

Book review 1043

Editor's note 1043

Other original articlesGenetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximalshort arm of the human X chromosome / A Glass, P Good, M P Coleman, P Fullwood,M G Giles, S Lindsay, A H Nemeth, K E Davies; H A Willshaw, A Fielder, M Kilpatrick,P A Farndon 1044Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetalnucleated erythrocytes isolated by negative magnetic cell sorting Y-L Zheng, N P Carter,CM Price, S M Colman, P J Milton, G A Hackett, M F Greaves, M A Ferguson-Smith 1 051

11057Index



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Documents

Journal of Medical Genetics January 1993 Vol 30 No 1Anewapproach to prenatal cystic fibrosis carrier screening ZMiedzybrodzka, NNaites, JDean 86 Book reviews 87 Notices 88 on February