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EditorialAnnotations

Original articles

Short communication

Case reports

Short report

809 The fragile X syndrome P A Jacobs811 Cloning of the gene for the fragile X syndrome: implications for the clinical

geneticist J M Connor814 Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth

International Symposium on X Linked Mental Retardation, Strasbourg, France,12 to 16 August 1991 (organiser Dr J-L Mandel) T Webb

818 Fragile X syndrome: genetic localisation by linkage mapping of two microsatelliterepeats FRAXACI and FRAXAC2 which immediately flank the fragile siteR I Richards, K Holman, H Kozman, E Kremer, M Lynch, M Pritchard, S Yu,J Mulley, G R Sutherland

824 Genotype prediction in the fragile X syndrome M C Hirst, Y Nakahori,S Jr L Knight, C Schwartz, S N Thibodeau, A Roche, TJ Flint, J M Connor,J-P Fryns, K E Davies

830 Selection in blood cells from female carriers of the fragile X syndrome: inversecorrelation between age and proportion of active X chromosomes carrying the fullmutation F Rousseau, D Heitz, I Oberle, J-L Mandel

837 A single lymphocyte culture for fragile X induction and prometaphase chromosomeanalysis M J Griffiths, M C Strachan

840 Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutationin one COL3A1 allele D 0 Sillence, A A Chiodo, P E Campbell, W G Cole

846 The midline craniofacial skeleton in holoprosencephalic fetuses I Kjcer,J W Keeling, N Grcm

856 Determination of Duchenne muscular dystrophy carrier status by single strandconformation polymorphism analysis of deleted regions of the dystrophin locusR I Richards, K Friend

860 Becker muscular dystrophy patient with a large intragenic dystrophin deletion:implications for functional minigenes and gene therapy D R Love, TJ Flint,S A Genet, H R Middleton-Price, K E Davies

865 Use ofDNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31German families H Schuster, G Rauh, Ch Gerl, Ch Keller, G Wolfram,N Zollner

871 Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferasedeficiency S Strautnieks, P Rutland, S Malcolm

875 A cystic fibrosis patient who is homozygous for the G85E mutation has very milddisease G Chalkley, A Harris

878 A cystic fibrosis patient with the nonsense mutation G542X and the splice sitemutation 1717-1 M Schloesser, S Arleth, U Lenz, R M Bertele, J Reiss

881 Multiple exostoses in a patient with t(8;1 1)(q24.1 1;p15.5) R F Ogle, P Dalzell,G Turner, D Wass, M-Y Yip

884 Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, andpolyneuropathy Jf H Begeer, F A Scholte, A J van Essen

886 Phenotypic expression of the first livebom 68,XX triploid newborn P Merlob,N Naor, M Shohat

888 Book reviews889 Index

BRITISH MEDICAL ASSOCIATION TAVISTOCK SQUARE LONDON WClH 9JR

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VOLUME 28 CONTENTS

No 1 JANUARY 1991 Page Review article1 Hereditary motor and sensory neuropathies J M Vance

Original articles6 An investigation of ring and dicentric chromosomes found in three Turner's

syndrome patients using DNA analysis and in situ hybridisation with X andY chromosome specific probes C Cooper, J A Crolla, C Laister, D I Johnston,P Cooke

10 Short stature/short limb skeletal dysplasia with severe combined immuno-deficiency and bowing of the femora: report of two patients and reviewK D MacDermot, R M Winter, J S Wigglesworth, S Strobel

18 Oculofacialbulbar palsy in mother and son: review of 26 reports of familialtransmission within the 'Mobius spectrum of defects' K D MacDermot,R M Winter, D Taylor, M Baraitser

27 Evidence for variable gene expression in a large inbred kindred with autosomalrecessive spondylocostal dysostosis P D Turnpenny, R J Thwaites, F N Boulos

34 Association of less common cystic fibrosis mutations with a mild phenotypeA Curtis, R Nelson, M Porteous, J Burn, S S Bhattacharya

38 Two distinct mutations at a single BamHI site in phenylketonuria D Melle,P Verelst, F Rey, M Berthelon, B Fran;ois, A Munnich, S Lyonnet

41 The sex ratios of probands and of secondary cases in conditions of multifactor-ial inheritance where liability varies with sex WH JonesSyndrome of the month

44 Aarskog syndrome M E M Porteous, D R GoudieCase reports

48 Growth hormone deficiency in a girl with the Cohen syndrome G Massa,L Dooms, M Vanderschueren-Lodeweyckx

51 Spondylocostal dysplasia and neural tube defects G P Giacoia, B Say54 Balanced t(6;8)(6p8p;6q8q) and the CHARGE association J A Hurst,

P Meinecke, M Baraitser

Dysmorphology report56 Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immuno-

deficiency, and a pattern of minor congenital anomalies C Braegger, A Bottani,F Halle, A Giedion, E Leumann, R Seger, U Willi, A SchinzelShort report

60 A familial case of chromosome 16p variant G Croci, L Camurri, F Franchi

Abstracts61 Abstracts of the meeting of the Association of Clinical Cytogeneticists held on

4 to 6 July 1990 at the University of Manchester, Owens Park

Letters to the Editor65 A familial X;autosome translocation associated with Becker type muscular

dystrophy? N Tommerup65 Facial measurements in the newborn K Mihes

66-72 Book reviews * Notices

No 2 FEBRUARY 1991 Review article73 Inherited amyloidosis M D Benson

Original articles79 Genetic aspects of antibiotic induced deafness: mitochondrial inheritance

D-N Hu, W-Q Qiu, B-T Wu, L-Z Fang, F Zhou, Y-P Gu, Q-H Zhang,J-H Yan, Y-Q Ding, H Wong

84 Identification of new DNA markers close to the myotonic dystrophy locusJ D Brook, H G Harley, K V Walsh, S A Rundle, M J Siciliano, P S Harper,D J Shaw


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89 Prenatal diagnosis of myotonic dystrophy using closely linked flanking markersC Lavedan, H Hofmann, P Shelbourne, C Duros, D Savoy, K Johnson,C Junien

92 The origin of a morphologically unidentifiable human supernumeraryminichromosome traced through sorting, molecular cloning, and in situhybridisation E Raimondi, L Ferretti, B D Young, V Sgaramella, L De Carli

97 An analysis of amplified insulin gene products in diabetics of Indian originG A Hitman, P K Kambo, M Viswanathan, V Mohan

101 Tay-Sachs disease heterozygote detection: use of a centrifugal analyser forautomation of hexosaminidase assays with two different articifical substratesE C Landels, I H Ellis, M Bobrow, A H Fensom

110 Clustering of malformations in the families of South American oral cleftneonates B G Menegotto, FM Salzano

114 Familial cutaneous photosensitivity and colitis with lethal outcome Ph Labrune,P Huguet, D Alagille, M Odievre

117 Pitfalls in counselling: the craniosynostoses R Marini, K Temple, L Chitty,S Genet, M Baraitser

Syndrome of the month122 Tetrasomy 12p (Pallister-Killian syndrome) A Schinzel

Case reports126 A malformed child with a recombinant chromosome 7, rec(7) dup p, derived

from a maternal pericentric inversion inv(7) (p15q36) A Delicado, E Escribano,I Lopez Pajares, A Diaz de Bustamante, S Carrasco

128 Two cases of interstitial deletion Ip MM R Lai, M F Robards, A C Berry,C N Fear, C Hart

131 The Ohdo blepharophimosis syndrome: a third case L Biesecker135 Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers:

a possible example of the disorganisation mutant R B Lowry, S-L Yong138 Human homologue for the mouse mutant disorganisation: does it exist?

KK Naguib, M S Hamoud, E S Khalil, M Y El-Khalifa

Dysmorphology report140 Unknown syndrome: mental retardation with dysmorphic features, early

balding, patella luxations, acromicria, and hypogonadism F A Scholte,J7 H Begeer, A J van EssenLetters to the Editor

143 Cornelia de Lange syndrome with ring chromosome 3 G N Wilson143 Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2

J' Allanson, S Richter

No 3 MARCH 1991 Original articles145 Prenatal diagnosis of osteogenesis imperfecta by identifcation of the concordant

collagen 1 allele J R Lynch, D Ogilvie, L Priestley, C Baigrie, R Smith,P Farndon, B Sykes

151 A cytogenetic and molecular study of a series of 45,X fetuses and their parentsA Cockwell, M MacKenzie, S Youings, P Jacobs

156 Analysis of the origin of Turner's syndrome using polymorphic DNA probesS A R Loughlin, A Redha, J McIver, E Boyd, A Carothers, J'M Connor

159 Molecular studies of non-disjunction in trisomy 16 T J Hassold, D Pettay,S B Freeman, M Grantham, N Takaesu

163 Molecular and cytogenetic analysis of a familial microdeletion of Xq S Wells,S Mould, D Robins, D Robinson, P Jacobs

167 Analysis of RFLPs and DNA deletions in the Chinese Duchenne musculardystrophy gene Y-T Zeng, M-J Chen, Z-R Ren, X-K Qiu, S-Z Huang

171 Restriction fragment length polymorphisms associated with the factor VIII andfactor IX genes in Polynesians N S Van-de-Water, D Ridgway, P A Ockelford

177 Frequency of the Tay-Sachs disease splice and insertion mutations in the UKAshkenazi Jewish population E C Landels, I H Ellis, A H Fensom, P M Green,M Bobrow


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181 Clinical and radiographic dental findings in X linked hypohidrotic ectodermaldysplasia P J M Crawford, M J Aldred, A Clarke

186 Dwarfism with gloomy face: a new syndrome with features of 3-M syndromeM Le Merrer, R Brauner, P Maroteaux

192 The acetylator phenotypes of Saudi Arabians with coronary arterial atheromaD A Price Evans, J Wicks, J Higgins, M Assisto

194 Analysis of problems in making the reproductive decision after geneticcounselling P G Frets, HJ Duivenvoorden, F Verhage, B M T Peters-Romeyn,M F NiermeijerSyndrome of the month

201 Floating-Harbor syndrome M A Patton, J Hurst, D Donnai,CM E McKeown, T Cole, J GoodshipCase reports

205 A new case of proximal 1Oq partial trisomy M I de Michelena, PJ Campos207 The CHARGE association and athyreosis J F Marin, B Garcia, A Quintana,

R Barrio, M T Sordo, C LozanoShort report

209 DMD carrier detection in a female with mosaic Turner's syndrome M Baiget,E Tizzano, V Volpini, E del Rio, T Perez- Vidal, P Gallano

Conference report211 The genetics, demography, and health of minority populations: a symposium

held by The Galton Institute, September 1990 S BundeyLetters to the Editor

213 Male proband with X linked retinoschisis apparently inherited from his father'sfamily M S Newton, S Collyer, C I Phillips

214 CHILD naevus is not ILVEN R Happle214 The variable clinical spectrum and mental prognosis of the acrocallosal

syndrome J P Fryns, A Spaepen, C Grubben, H Van den Berghe, P Casaer215-216 Books reviews * Notice

No 4 APRIL 1991 Review article217 On the parental origin of de novo mutation in man A C Chandley

Original articles224 Patterns of inheritance of the symptoms of Huntington's disease suggestive of

an effect of genomic imprinting R M Ridley, C D Frith, L A Farrer,PM Conneally

232 Fabry disease in a large Nova Scotia kindred: carrier detection using leucocytea-galactosidase activity and an NcoI polymorphism detected by an a-galactosi-dase cDNA clone A J Kirkilionis, D C Riddell, M W Spence, R G Fenwick

241 Aldolase B mutations in Italian families affected by hereditary fructoseintolerance G Sebastio, R de Franchis, P Strisciuglio, G Andria, C Dionisi Vici,G Sabetta, R Gatti, N C P Cross, T M Cox

244 Molecular heterogeneity at the phenylalanine hydroxylase locus in thepopulation of the south-west of England L A Tyfield, MJ Osborn, J B Holton

248 Genetic analysis in cystic fibrosis using the amplification refractory mutationsystem (ARMS): the J3.11 MspI polymorphism C R Newton, C Summers,L E Heptinstall, J R Lynch, R S Finniear, D Ogilvie, J C Smith, A F Markham

252 Homozygous 3 + thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human j globin geneM Losekoot, R Fodde,C L Harteveld, H van Heeren, P C Giordano, L N Went, L F Bernini

256 Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhornsyndrome 0 WJ Quarrell, R G Snell, M A Curtis, S H Roberts, P S Harper,D J Shaw

Short communication260 PCR amplification of genomic DNA from a 24 year old lysate derived from

washed human erythrocytes W R Chegwidden, P I Venta, R E Tashian


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Syndrome of the month262 Hereditary multiple exostoses R C M Hennekam

Case reports267 Neonatal Marfan syndrome with congenital arachnodactyly, flexion

contractures, and severe cardiac valve insufficiency I M Buntinx, P J Willens,S E Spitaels, P J Van Reempst, A M De Paepe, J E Dumon

274 Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsissyndrome R T L Couper, R W Byard, E Cutz, D A Stringer, P R Durie

277 Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome):confirmation of autosomal recessive inheritance J C Cabral de Almeida,D F Reis, J Lierena Jr, J Barbosa Neto, R Lopes Pontes, S Middleton,L F Telles

280 Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, andother abnormalities C P Bennett, D R Betts, M J Seller

282 Schizophrenia and mental retardation in an adult male with a de novo intersti-tial deletion 9(q32q34.1) J P Park, J' B Moeschler, S Z Berg, D H Wurster-HillConference report

284 Third International Symposium on the Neuronal Ceroid-Lipofuscinoses(Batten's disease), Indianapolis, Indiana, USA A Siakotos, I Haines,G Dawson

Letter to the Editor286 Reproductive fitness and frequency of new mutations in Becker muscular

dystrophy: implications for genetic risk estimates M R Passos-Bueno, M Zatz287 Book reviews

No 5 MAY 1991 Original articles289 The UK Northern Region genetic register for familial adenomatous polyposis

coli: use of age of onset, congenital hypertrophy of the retinal pigmentepithelium, and DNA markers in risk calculations J Burn, P Chapman,J Delhanty, C Wood, F Lalloo, M B Cachon-Gonzalez, K Tsioupra, W Church,M Rhodes, A Gunn

297 Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndromewith features of hydrolethalus and Smith-Lemli-Opitz syndromes. Acollaborative multicentre study A Verloes, S Ayme, D Gambarelli, M Gonzales,M Le Merrer, N Mulliez, N Philip, J Roume

304 A convenient multiplex PCR system for the detection of dystrophin genedeletions: a comparative analysis with cDNA hybridisation shows mistypingsby both methods S Abbs, S C Yau, S Clark, C G Mathew, M Bobrow

312 Application of PCR amplification of DNA from paraffin embedded tissuesections to linkage analysis in familial retinoblastoma Z Onadim, J K Cowell

317 The incidence of different cystic fibrosis mutations in the Scottish population:effects on prenatal diagnosis and genetic counselling A E Shrimpton,I McIntosh, D J H Brock

322 What do young people think about screening for cystic fibrosis E Cobb,S Holloway, R Elton, J A Raeburn

325 Epidemiological and genetic study in 207 cases of oral clefts in Alsace,north-eastern France C Stoll, Y Alembik, B Dott, M P Roth

330 Sweat testing to identify female carriers ofX linked hypohidrotic ectodermaldysplasia A Clarke, J Burn

334 Adult polycystic kidney disease in a kindred of West Indian origin exhibitslinkage with the 3'HVR probe on chromosome 16 S Jeffrey, A J Wing,M Patton

Hypothesis337 Somatic recombination may explain linear psoriasis R Happle

Syndrome of the month338 Coffin-Siris syndrome P Levy, M Baraitser

Case reports342 Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome

possibly localised on chromsome 2 R Pallotta


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345 Infantile spinal muscular atrophy (SMA) and multiple congenital bonefractures in sibs: a lethal new syndrome Z Borochowitz, B Glick, S Blazer

349 Hypercoagulability in a patient with Marfan syndrome J E Humphries,G A Stouffer, T E Kelly, C E Rose Jr

352 Interstitial deletion of the long arm of chromsome 18, del(l8)(ql2.2q21.1): areport of three cases of an autosomal deletion with a mild phenotypeA Schinzel, F Binkert, D M Lillington, M Sands, R Jf Stocks, R H Lindenbaum,H Matthews, H Sheridan

Short report356 A new folate sensitive fragile site at 1p21.3 E Baker, G R Sutherland

Letters to the Editor358 Prevalence of fragile X syndrome T Webb, S Bundey358 HLA markers, hormones, and disease W H James

359-360 Book reviews * Notice

No 6 JUNE 1991 Review article361 X linked mental retardation I A Glass

Original articles372 Localisation of the MRX3 gene for non-specific X linked mental retardation

A Gedeon, B Kerr, J Mulley, G Turner378 Non-specific X linked mental retardation B Kerr, G Turner, J Mulley,

A Gedeon, M Partington383 Contribution to carrier detection and genetic counselling in X linked

retinoschisis J Kaplan, A Pelet, H Hentati, M Jeanpierre, M L Briard,HJournel, A Munnich, J L Dufier

389 Autosomal dominant inheritance of abnormalities of the hands and feet withshort palpebral fissures, variable microcephaly with learning disability, andoesophageal/duodenal atresia H G Brunner, R M Winter

395 On the incidence of fits and mental retardation in tuberous sclerosisD W Webb, A E Fryer, 7 P Osborne

398 Segregation and sporadic cases in families with Hunter's syndrome G Machill,G Barbujani, G A Danieli, FH Herrmann

402 Sanfilippo syndrome type D in two adolescent sisters L Siciliano, A Fiumara,L Pavone, C Freeman, D Robertson, C P Morris, J J Hopwood, P Di Natale,S Musumeci, A L Horwitz

Syndrome of the month406 The Holt-Oram syndrome J A Hurst, C M Hall, M Baraitser

Case reports411 Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial

aplasia M Hewitt, P W Lunt, A Oakhill413 Deletion of chromosome 13 in Moebius syndrome J Slee, R D Smart,

D L Viljoen415 Matemal transmission of translocation 2;21 associated with Down's syndrome

S V Kotwaliwale, V V Dicholkar, N D Motashaw417 Non-penetrance in tuberous sclerosis D W Webb, J P Osborne420 A fertile male with cystic fibrosis: molecular genetic analysis C Barreto,

L Marques Pinto, A Duarte, J Lavinha, M RamsayDysmorphology report

422 Unknown syndrome: proportionate short stature, mandibular prognathism, andshort femoral necks P J Morrison, N C Nevin, R W KendrickShort reports

424 Cranioectodermal dysplasia in sibs G D Lang, I D Young425 Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation

Jf Nikolis, K Ivanovic, V Diklic427 Translocation 19;Y in a child with Bannayan-Zonana phenotype J Israel,

M Lessick, K Szego, P Wong


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Letters to the Editor429 Genes for intelligence on the X chromsome G Turner, M W Partington429 X linked complicated spastic paraplegia, MASA syndrome, and X linked

hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variableexpression of the same mutation at Xq28 J P Fryns, A Spaepen, J J Cassiman,H Van den Berghe

431 Book reviews

No 7 JULY 1991 Review article433 Osteogenesis imperfecta: translation of mutation to phenotype P H Byers,

G A Wallis, M C Willing

Original articles443 Von Hippel-Lindau disease: a genetic study E R Maher, L Iselius,

J R W Yates, M Littler, C Benjamin, R Harris, J Sampson, A Williams,M A Ferguson-Smith, N Morton

448 Predictive diagnosis of myotonic dystrophy with flanking microsatellite markersJ C Mulley, A K Gedeon, S J White, E A Haan, R I Richards

453 Genetic localisation of the RP2 type ofX linked retinitis pigmentosa in a largekindred A F Wright, S S Bhattacharya, M A Aldred, M Jay, A D Carothers,N S T Thomas, A C Bird, B J7ay, H J Evans

458 Characterisation of a glycine to valine substitution at amino acid position 910of the triple helical region of type III collagen in a patient with Ehlers-Danlossyndrome type IV A J Richards, J C Lloyd. P N Ward, A De Paepe, P Narcisi,FM Pope

464 A nonsense mutation in the tyrosinase negative (type IA) oculocutaneousalbinism L B Giebel, M A Musarella, R A Spritz

468 Sister chromatid exchange evaluation as an aid to the diagnosis and exclusionof Fanconi's anaemia by induced chromosome damage analysis R T Howell

472 Application of D'Arcy Thompson's coordinate transformation approach toclinical genetics photographs using image processing techniques J H DiLiberti

Short communication477 A rare heteromorphism of chromosome 20 and reproductive loss D R Romain,

S Whyte, D F Callen, E J Eyre

Case reports479 Bilateral split hand and split foot malformation in a boy with a de novo

interstitial deletion of 7q21.3 S H Roberts, H E Hughes, S J Davies, A LMeredith

482 Tyrosinase positive albinism with familial 46,XY,t(2;4)(q31.2;q31.22) balancedtranslocation I R Walpole, M T Mulcahy

485 Genochondromatosis M Le Merrer, P Fressinger, P Maroteaux490 Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the

aetiology? Y Gillerot, L Van Maldergem, R Chef, L Koulischer492 Familial occurrence of tumours of the choroid plexus C P Zwetsloot, J M Kros,

H D Paz y Geuze495 Congenital intestinal pseudo-obstruction associated with a giant platelet

disorder I Pollock, S J'K Holmes, M A Patton, P A Hamilton, T E Stacey497 Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome

MM R Lai, J D Spencer, J A Montandon, A C Berry499 Normal MPS excretion, but dermatan sulphaturia, combined with a mild

Maroteaux-Lamy phenotype T Tonnesen, HN Gregersen, F GuittlerShort report

502 Parental mosaicism in de novo translocation (21q;21q) Down's syndromeG Croci, F FranchiLetter to the Editor

503 Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctataL J Sheffield, J L Halliday, F Jensen

504 Book review e Notices


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No 8 AUGUST 1991

No 9 SEPTEMBER 1991

Original articles505 Immunohistochemical studies show truncated dystrophins in the myotubes of

three fetuses at risk for Duchenne muscular dystrophy I B Ginjaar, E Bakker,M B M van Paassen, J T den Dunnen, A Wessels, E E Zubrzycka-Gaarn,A FM Moorman, G-J B van Ommen

511 Maternal uniparental disomy for chromosome 14 I K Temple, A Cockwell,T Hassold, D Pettay, P Jacobs

515 Age at onset in Huntington's disease: effect of line of inheritance and patient'ssex R A C Roos, M Vegter-van der Vlis, J Hermans, HM Elshove, A C Moll,JJ P van de Kamp, G W Bruyn

520 Linkage disequilibrium and recombination make a telomeric site for theHuntington's disease gene unlikely L Barron, A Curtis, A E Shrimpton,S Holloway, H May, R G Snell, D J H Brock

523 Reproductive behaviour of families segregating for Cooley's anaemia beforeand after the availability of prenatal diagnosis M R Gamberini,M Lucci,C Vullo, B Anderson, R Canella, I BarraiCase reports

530 Single maxillary central incisor in a girl with del(18p) syndrome D J Aughton,A A AlSaadi, D J Transue

533 Interstitial deletion of chromosome 13: prognosis and adult phenotypeJ C S Dean, S Simpson, D A Couzin, G S Stephen

536 De novo ring chromosome 3: a new case with a mild phenotype M McKinley,A Colley, P Sinclair, D Donnai, T Andrews

539 De novo interstitial deletion of lp (pter-*p34.1::p32.3-.qter) M Yoshino,Y Watanabe, N Harada, K Abe

541 Pallister-Killian syndrome: additional manifestations of cleft palate and sacralappendage D R McLeod, L R Wesselman, D I Hoar

544 Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidusR B S Laing, J C S Dean, D WM Pearson, A WJohnston

547 Neurosonography and pathology in the Schinzel-Giedion syndromeA C Maclennan, D Doyle, R M SimpsonAbstracts

550 Abstracts of the meeting of the Clinical Genetics Society held on 28 November1990 at the Institute of Education, London

562 Abstracts of the meeting of the Clinical Genetics Society held on 20 to 22March 1991 at Belfast City HospitalLetters to the Editor

575 Cystic fibrosis screening and community genetics G Turner, B Wilcken,H Griffiths

575 False positive results with immunoreactive trypsinogen screening for cysticfibrosis owing to trisomy 13 FJ Priest, N C Nevin

576 Notices

Original articles577 Chromosome in situ suppression hybridisation in clinical cytogenetics

M A Hultin, C P Gould, A S H Goldman, JJ Waters583 Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17

M C Koch, K Ricker, M Otto, T Grimm, E P Hoffman, R Rudel, K Bender,B Zoll, P S Harper, F Lehmann-Horn

587 The human genes for complement components 6 (C6) and 9 (C9) are closelylinked on chromosome 5 S Rogne, 0 Myklebost, J H Olving, H T Kyrkjebe,R Jonassen, B Olaisen, T Gedde-Dahl Jr

591 Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XXmales, XX true hermaphrodites, and an XY female E T Pereira, J C Cabral deAlmeida, A C Y R G Gunha, M Patton, R Taylor, S Jeffery

596 Velocardiofacial (Shprintzen) syndrome: an important syndrome for thedysmorphologist to recognise A H Lipson, D Yuille, M Angel, P G Thompson,J C Vandervoord, EB Beckenham

605 Do familial neural tube defects breed true? E Drainer, HM May,J L Tolmie


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609 49,XXXXY syndrome: behavioural and developmental profiles C A Lomelino,A L Reiss

613 Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, CanadaJ Daigneault, G Aubin, F Simard, M De Braekeleer

615 High "Cu uptake and retention values in two clinically atypical Menkespatients T Tonnesen, C Garrett, A-M Gerdes

Case reports619 Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?

I M Winship, D L Viljoen, PM Leary, M M De Moor622 Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia:

frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?W Reardon, CM Hall, MJ Dillon, M Baraitser

627 Smith-Magenis syndrome: a new contiguous gene syndrome. Report of threenew cases A Moncla, M 0 Livet, M Auger, J F Mattei, M G Mattei, F Giraud

633 A new recessive syndrome of unusual facies and multiple structuralabnormalities Y Thakker, D Donnai

636 Postaxial acrofacial dysostosis (Miller) syndrome: a new case J Vigneron,M Stricker, P Vert, JM Rousselot, M Levy

639 A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Langesyndrome M Ireland, C English, I Cross, W T Houlsby, J Burn

641 Mosaic partial trisomy 17q2 P A King, A Ghosh, M Tang

Letters to the Editor644 The frequency of mental retardation in hypochondroplasia R Wynne-Davies,

M A Patton644 Unusual inheritance of Becker type muscular dystrophy R Lisker,

0 Mutchinick, L Ruz644 Haematometra in the Langer-Giedion syndrome M W Partington, J Rae,

M J Payne645 Two additional patients representing the possible human homologue for the

mouse mutant disorganisation (Ds) A E Lin647-648 Book reviews e Notices

No 10 OCTOBER 1991 Original articles649 Molecular and cytogenetic studies of the Prader-Willi syndrome R J Trent,

F Volpato, A Smith, R Lindeman, M-K Wong, G Warne, E Haan655 Genetic counselling in facioscapulohumeral muscular dystrophy P W Lunt,

P S Harper665 A closely linked DNA marker for facioscapulohumeral disease on chromosome

4q M Upadhyaya, P W Lunt, M Sarfarazi, W Broadhead, J Daniels, M Owen,P S Harper

672 Sex ratio of the mutation frequencies in haemophilia A: coagulation assays andRFLP analysis A HJI T Brdcker-Vriends, F R Rosendaal, J C van Houwelingen,E Bakker, G J B van Ommen, JJ P van de Kamp, E Briit

681 Linkage analysis in adenomatous polyposis coli: the use of four closely linkedDNA probes in 20 UK families M B Cachon-Gonzalez, J D A Delhanty,J' Burn, K Tsioupra, M B Davis, J Attwood, P Chapman

686 Silent mutations in the phenylalanine hydroxylase gene as an aid to thediagnosis of phenylketonuria L Kalaydjieva, B Dworniczak, C Aulehla-Scholz,M Devoto, G Romeo, M Sturhmann, V Kucinskas, V Yurgelyavicius, J Horst

Case reports691 A male with type I orofaciodigital syndrome J Goodship, J Platt, R Smith,

J Burn695 Miller syndrome (postaxial acrofacial dysostosis): further evidence for

autosomal recessive inheritance and expansion of the phenotypeA L Ogilvy-Stuart, A C Parsons

701 A new form of autosomal dominant arthrogryposis MM R Lai,M A Tettenborn, J7 G Hall, L J' Smith, A C Berry


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704 Cerebrocostomandibular syndrome in four sibs, two pairs of twinsV Drossou-Agakidou, A Andreou, V Soubassi-Griva, M Pandouraki

708 Encephalopathy with intracerebral calcification, white matter lesions, growthhormone deficiency, microcephaly, and retinal degeneration: two sibsconfirming a probably distinct entity C G Bonnemann, P Meinecke, H Reich

712 Disorganisation: a possible cause of apparent conjoint twinning M A Petzel,R P Erickson

715 A cystic fibrosis patient homozygous for the nonsense mutation R553X J Bal,M Stuhrmann, M Schloesser, J Schmidtke, J Reiss

Short report718 An animal model for maternal phenylketonuria C Roux, F Rey, S Lyonnet,

S Nizard, N Mulliez, A MunnichConference report

720 Social and genetic implications of customary consanguineous marriage amongBritish Pakistanis. Report of a meeting held at the Ciba Foundation on 15January 1991 B ModellLetters to the Editor

724 The non-deletion type of a thalassaemia/mental retardation: a recognisabledysmorphic syndrome with X linked inheritance A 0 M Wilkie, M E Pembrey,R J Gibbons, D R Higgs, M E M Porteous, J Burn, R M Winter

724 Leiomyosarcoma in a patient with trisomy 8 mosaicism WM Molenaar,B De Jong, E Van den Berg

725 Further evidence for the location of the BPES gene at 3q2C E M de Die-Smulders, JJ M Engelen, J M Donk, J P Fryns

725-728 Book reviews

No 11 NOVEMBER 1991 Review article729 A newly defined X linked mental retardation syndrome associated with

a thalassaemia R J Gibbons, A 0 M Wilkie, D J Weatherall, D R Higgs

Original articles734 a thalassaemia/mental retardation syndrome (non-deletional type): report of a

family supporting X linked inheritance T R P Cole, A May, H E Hughes738 X linked a thalassaemia/mental retardation: spectrum of clinical features in

three related males A 0 M Wilkie, R J Gibbons, D R Higgs, M E Pembrey742 The non-deletion a thalassaemia/mental retardation syndrome: further support

for X linkage D Donnai, J Clayton-Smith, R J Gibbons, D R Higgs746 A genetic study of neurofibromatosis 1 in south-western Ontario. I Population,

familial segregation of phenotype, and molecular linkage D I Rodenhiser,M B Coulter-Mackie, J H Jung, S M Singh

752 Watson syndrome: is it a subtype of type 1 neurofibromatosis? J E Allanson,M Upadhyaya, G H Watson, M Partington, A MacKenzie, D Lahey,H MacLeod, M Sarfarazi, W Broadhead, P S Harper, S M Huson

757 Substitution of cysteine for glycine at residue 415 of one allele of the al(I)chain of type I procollagen in type III/IV osteogenesis imperfectaA C Nicholls, J Oliver, D V Renouf, M Keston, F M Pope

765 Analysis of mitochondrial DNA in Leber's hereditary optic neuropathyJ Poulton, M E Deadman, J Bronte-Stewart, W S Foulds, R M Gardiner

771 Mutation and linkage disequilibrium analysis in genetic counselling of Spanishcystic fibrosis families T Casals, V Nunes, C Ldzaro, FJ Giminez, E Girbau,V Volpini, X Estivill

Short communication777 Lymphocyte mRNA as a resource for detection of mutations and

polymorphisms in the CF gene G Chalkley, A HarrisCase reports

781 Transmission of Proteus syndrome from father to son? J Goodship, A Redfearn,D Milligan, D Gardner-Medwin, J Burn

786 Microtia and short stature: a new syndrome B Cohen, I K Temple, J C Symons,CM Hall, D G Shaw, M Bhamra, A M Jackson, M E Pembrey


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791 Ectopia lentis et pupillae: the genetic aspects and differential diagnosisA Colley, I C Lloyd, A Ridgway, D Donnai

795 Microcephalic osteodysplastic primordial dwarfism type I/III in sibsP Meinecke, E Passarge

Short reports801 Three cases of 16q duplication E R Maher, L Willatt, G Cuthbert, C Chapman,

S V Hodgson803 Severe manifestations of oculoauriculovertebral spectrum in a cocaine exposed

infant M Lessick, R Vasa, J IsraelLetters to the Editor

805 Kuwait type faciodigitogenital syndrome A S Teebi, S A Al Awadi805 Pericentromeric heterochromatin of chromosome 3 S Luke, R S Verma807 Cystic fibrosis in Bulgaria L Kalaydjieva, D Angelicheva, I Galeva, V Lalov,

D Konstantinova807 Floating Harbor and the good ship Shprintzen A Lipson808 Book review * Notice

No 12 DECEMBER 1991 Editorial809 The fragile X syndrome P A Jacobs

Annotations811 Cloning of the gene for the fragile X syndrome: implications for the clinical

geneticist JM Connor814 Molecular genetics of fragile X: a cytogenetics viewpoint. Report of the Fifth

International Symposium on X Linked Mental Retardation, Strasbourg,France, 12 to 16 August 1991 (organiser Dr J-L Mandel) T Webb

Original articles818 Fragile X syndrome: genetic localisation by linkage mapping of two

microsatellite repeats FRAXACI and FRAXAC2 which immediately flank thefragile site R I Richards, K Holman, H Kozman, E Kremer, M Lynch,M Pritchard, S Yu, J Mulley, G R Sutherland

824 Genotype prediction in the fragile X syndrome M C Hirst, Y Nakahori,S J L Knight, C Schwartz, S N Thibodeau, A Roche, T J Flint, J M Connor,J-P Fryns, K E Davies

830 Selection in blood cells from female carriers of the fragile X syndrome: inversecorrelation between age and proportion of active X chromosomes carrying thefull mutation F Rousseau, D Heitz, I Oberli, J-L Mandel

837 A single lymphocyte culture for fragile X induction and prometaphasechromosome analysis M J Griffiths, M C Strachan

840 Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicingmutation in one COL3A1 allele D 0 Sillence, A A Chiodo, P E Campbell,W G Cole

846 The midline craniofacial skeleton in holoprosencephalic fetuses I Kjar,J W Keeling, N Gram

856 Determination of Duchenne muscular dystrophy carrier status by single strandconformation polymorphism analysis of deleted regions of the dystrophin locusR I Richards, K Friend

860 Becker muscular dystrophy patient with a large intragenic dystrophin deletion:implications for functional minigenes and gene therapy D R Love, TJ Flint,S A Genet, H R Middleton-Price, K E Davies

865 Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemiain 31 German families H Schuster, G Rauh, Ch Gerl, Ch Keller, G Wolfram,N Zollner

871 Arginine 109 to glutamine mutation in a girl with ornithine carbamoyltransferase deficiency S Strautnieks, P Rutland, S MalcolmShort communication

875 A cystic fibrosis patient who is homozygous for the G85E mutation has verymild disease G Chalkley, A Harris


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Case reports878 A cystic fibrosis patient with the nonsense mutation G542X and the splice site

mutation 1717-1 M Schloesser, S Arleth, U Lenz, R M Bertele, J Reiss881 Multiple exostoses in a patient with t(8;11)(q24.11;p15.5) R F Ogle, P Daizell,

G Turner, D Wass, M-Y Yip884 Two sisters with mental retardation, cataract, ataxia, progressive hearing loss,

and polyneuropathy J H Begeer, F A Scholte, A J van EssenShort report

886 Phenotypic expression of the first liveborn 68,XX triploid newborn P Merlob,N Naor, M Shohat

888 Book reviews889 Index


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