Programme Monday September - jmg.bmj.com · PArana(Madrid) 11.35Meioticsegregationstudies ofintactmouseoocytes RLeMaire (Cleveland) 10. 30-12.30 WORKSHOPSFOR CLINICAL MOLECULAR GENETICSSOCIETY

British Human Genetics Conference 1996

Programme

Monday 16 September 1996

08.00-10.00 BRITISH SOCIETY FOR HUMAN GENETICS - Council MeetingRoom V044 Vanbrugh College

09.00-17.00 Genetic databasesA member of the Human Genome Mapping Project Resource Centre will give demonstrations of Genetic databases(including GDB and OMIM) in Derwent College. There will be 5 terminals available all day with direct access to

HGMP computing facilities for participants to have "hands on" experience.

Concurrent sessions

10.00-12.00AGNC MEMBERS:AUDIT ANDRESEARCHPRESENTATIONSOrganised by Jan Moore(Birmingham)

10.10 Investigation andcounselling of ahomologousRobertsoniantranslocation carrier witha cytogenetically normaloffspringK Smitht (Oxford)

10.30 Syndromediagnosis - the parent'sviewGeorgina Hall (Manchester)

10.50 Defining the skillsand knowledge base ofgenetic nursing practicePenny Guilbert(Nottinigham)

10.30-12.30MEIOTIC RECOMBINATIONAND SEGREGATION(organised and chaired by Maj Hulten)

10.30 Recombination proteins -

from bacteria to man F E Benson(London)

10.45 Molecular recombinationmodels revisitedD-H Lankenau (Heidelberg)

10.55 New recombination studiesin mice and menM Hulten(Birmingham)

11.05 Meiotic segregation errors -

from yeast to man R Borts (Oxford)

11.20 Meiotic segregation studiesof living grasshopperspermatocytesP Arana (Madrid)

11.35 Meiotic segregation studiesof intact mouse oocytes R Le Maire(Cleveland)

10. 30-12.30WORKSHOPS FORCLINICALMOLECULARGENETICS SOCIETYMEMBERS

10.00-11.15Automated DNAanalysis(organised by GrahamTaylor:0113 283 7083)

11.30-12.30Multifactorial Disorders(organised by Jo Whittaker:01223 217971)

10.30-12.30RECENTADVANCES INNEUROMUSCULARDISORDERS

Transmission ofmitochondrial disordersand prospects forprenatal diagnosis.Dr Jo Poulton

Mitochondrialdisorders: an update onphenotypesDr Laurie Bindoff

Congenital Myopathiesand MuscularDystrophies: Recentadvances and improveddiagnostic potentialDr Kate Bushby

11.20 Audit of telephoneactivity by Genetic NurseSpecialists (Nottingham)

11.30 Improvinginformation giving inclinical genetics: theeffectiveness of taperecording the clinicconsultation Greta Curtis(Southamnpton)

11.50 FISH analysis of meioticrecombination and segregation oftranslocation heterozygotes in miceand men C Tease (Oxford)

12.05 Nondisjunction studies ofhuman sperm D Griffin (Cambridge)

12.15 Meiotic outcome followingpreimplantation diagnosisI Delhanty (London)

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12.15-13.45 Poster viewing and lunch

12.30 ASSOCIATION OF GENETIC NURSES AND COUNSELLORS Business MeetingRoom PLOO1, Exhibition Centre

12.30 CLINICAL MOLECULAR GENETICS SOCIETY- Council MeetingRoom PLOO1, Exhibition Centre

13.00 THE CALMAN REPORT: SPECIALIST REGISTRAR TRAINING IN CLINICAL GENETICS

14.00- 17.15 Concurrent sessionsPlenary session

14.00 (SPI)llq23 rearrangements in acute leukaemias:strategies for molecular cytogenetic detectionCuthbert, Gavin; Curtis, Ann; Bown, Nick

14.15 (SP2)Chromosome painting in mammals as an approachto comparative genomicsWienberg, Johannes; Burkin,D; FinelliF; Miiller,S; Yang,F;O'Brien,P; Ferguson-Smith, MA; Nash, WG; O'Brien, SJ;Consiglione, S; Stanyon,R

14.30 (SP3)Co-segregation of a balanced translocation (3; 20)(p21.2; q12.) in a family with maturity-onsetdiabetes of the young (MODY) localises theMODYI gene to 20q12.Ellard, Sian; Appleton, M; Turnpenny P; Hattersley, AT

Testing of childrenOrganised by the Association ofGenetic Nurses and Counsellors

14.00A personal experience.Sarah Kennedy

14.30Testing children and adolescents - a psychologicalperspectiveJulie Binedell

14.45 (SP4)Mosaicism in Turner's syndrome and correlationwith phenotype.Chu, Carol E; Donaldson, MDC; Kelnar CJH; Smail PJ;Greene SA; Connor JM

15.00 (SP5)Cognitive and Physical Phenotypic Associationswith Ring X Chromosome.Brian Coppin; David Skuse; Caroline Mitchell; PatriciaJacobs; Nick Dennis, John Crolla; Paola Dalton

15.00Legal IssuesSpeaker to be confirmed

15.15 (SP6)Rapid molecular genetic analysis of Charcot-Marie-Tooth type 1A (CMTIA) and hereditary neuropathywith liability to pressure palsies (HNPP)Harvey, J; Bullman, H; Crolla, J; Shaw, A

15.30-16.00 TEA AND POSTER VIEWING


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16.00-17.15 Plenary session 16.00-17.00 Testing of children

16.00 (SP7)Alternative splicing of hydroxymethylbilanesynthase mRNA excludes exons 3 and 12.Ong, Patricia; Lanyon, WG; Connor, JM

16.15 (SP8)A Gene (RPGR) with homology to the RCC1Guanine Nucleotide Exchange Factor is Mutated inX-linked retinitis pigmentosa (RP3)Manson, Forbes; Dry, K; Edgar, A; Lennon, A; Porter, K; Bird,A; Jay, M; Wright, A

16.00Genetic Testing of ChildrenPanel Session

Panel Members:Chris Barnes, Julie BinedellFrances Flinter, John GillottSarah Kennedy, Legal representative

16.30 (SP9)A single PCR assay detects CMTIA duplicationsand HNPP deletions of PMP-22 gene.

Yau, Shu C.; Mathew, C.G. and Abbs, S.

16.45 (SPIO)Genotype to phenotype correlations in thepseudoachondroplasia - multiple epiphysealdysplasia disease spectrumBriggs, Michael; Rimoin, DL; Cohn, DH

17.00 (SP1)Schizophrenia Multifactorial Linkage Diabetes Theschizophrenia problemEdwards; J.H

17.15 CLINICAL GENETICS SOCIETYAnnual General Meeting -

Room PLOO Exhibition Centre

ASSOCIATION OF CLINICALCYIOGENETICISTS Annual General MeetingCentral Hall

20.30-23.30 CONFERENCE SOCIAL PROGRAMME: BARN DANCE

Tuesday 17 September 1996

09.00-10.30 Plenary session: Breast cancer genetics and BRCA1IBRCA2(organised by the Cancer Family Study Group) Chair: Professor Bruce Ponder

09.00 BRCA1 and BRCA2 Professor Ellen Solomon

09.25 Epidemiology of BRCA1 and BRCA2 Dr Douglas Easton

09.45 A cohort study of BRCA1 and BRCA2 mutation carriers Professor Tim Bishop

10.00 Implementation of clinical testing for BRCA1 and BRCA2 mutations Professor Bruce Ponder


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10.30-11.00 COFFEE AND POSTER VIEWING

11.00-12.30 Plenary Session

11.00 (SP12) Potential uptake of predictive testing for BRCA1 and subsequent prophylactic mastectomy amongstdifferent groups ofwomenLalloo, Fiona; Middleton, A; Zeiton, A; Hadfield, L; Barr, L; Evans, DGR

11.15 (SP13) The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21Brown, Melissa; Xu, Chun-Fang; Nicolai, Hans; Griffiths, Beatrice; Chambers, Julie; Black, Donald;Solomon, Ellen

11.30 (SP14) Molecular genetic investigations of familial phaeochromocytomaWoodward, Emma R; Eng, C, Affara, NA, Ponder, BAJ, Maher, ER

11.45 (SP15) Genotype-phenotype correlations in FAPWallis, Yvonne; Morton, D; Khan, PM; Macdonald, F

12.00 (SP16) Allelic heterogeneity and modifier effects determine expression in von Hippel Lindau disease.Webster; Andrew R;Maher ER;Woodward ER;Richards FM;Moore AT

12.15 (SP17) A Protocol For Testing For MEN2A Gene Caxriers In ChildhoodMorrison, Patrick J; Hadden, DR; Russell, CFJ; Hughes, AE; Powell, D; Nevin, NC

12.30 BRITISH SOCIETY FOR HUMAN GENETICS - Annual General Meeting12.30-14.00 LUNCH AND POSTER VIEWING

14.00-17.30 40th Anniversary Symposium to mark the discovery of the correctchromosome number ofman

CHAIR: Professor Patricia Jacobs14.00 Introduction of distinguished guests and messages from Hin Tjio and Albert Levan

Professor David Hamden

14.15 The Discovery Professor Maj Hulten

14.30 THE CARTER LECTUREHuman and Clinical Cytogenetics: Origins, Evolution and ImpactProfessor Paul Polani

15.15-15.45 TEA AND POSTER VIEWING

Chair: Professor Malcolm Ferguson-Smith15.45 Chromosomal Abnormalities in Human Tumours. Epiphenomena to Cause in 40 years

Dr Michelle Le Beau

16.15 Using FISH in Gene and Genome Mapping Towards the Limits of ResolutionProfessor Gert Jan van Ommen

16.45 Cytogenetics beyond 2000 Professor Niels Tommerup

17.15 Concluding remarks Professor Malcolm Ferguson-Smith


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19.00 CONFERENCE SOCIAL PROGRAMME: CONFERENCE DINNER

Wednesday 18 September 1996

09.00-10.30 Plenary session

09.00 (SP18) Duplications of proximal 15qBrowne, Caroline; Maher, E; Long, F; Temple, K; Dennis, N; Barber, J Crolla, J

09.15 (SP19) Clinical and molecular analysis of 80 patients with Williams syndrome and identification of a novelgene deleted inWS patientsMetcalfe, Kay; Faure, S; Dore, J; Fergusson, WD; Donnai, D; Read, AP; Tassabehji, M

09.30 (SP20) IGF2 imprinting in Beckwith-Widemann syndrome (BWS)Lam, Wayne; Joyce, J A; Catchpoole, D; Reik, W; Schofield, P S; Maher, E R

09.45 (SP21) High specificity of a molecular test for facioscapulohumeral muscular dystrophy (FSHD) enablesdiagnostic service testing in most cases.Lunt, PW; Hill, H; Tyfield, L

10.00 (SP22) Genetic analysis of patients diagnosed with Friedreich's AtaxiaLamont, Phillipa; Davis, MB; Woood, NW

10.15 (SP23) Phenotype and genetic studies in FRAXF and FRAXE families.D Ravine; LP Lazarou; SJL Knight; R Connors; A Clarke

10.30-11.0.0 COFFEE AND POSTER VIEWING


11.00 (SP24) Renal cystic disease occurs predominantly in tuberous sclerosis of the TSC2 type and reflectsmutational involvement of the PKD1 geneSampson, Julian; Maheshwar, M;. Aspinwall, R, Thompson, P; Cheadle, J; Ravine, D; Roy, S; Haan, E;Bernstein, J; Harris, P

11.15 (SP25) Possible adverse effects of fragile X premutation and intermediate alleles.Murray, Anna; Dennis, N R; Macpherson, J N; Youings, S A; Jacobs, P A.

11.30 (SP26) Synpolydactyly (SPD) phenotypes correlate with size of expansions in HOXD13. polyalanine tract.Goodman, Frances; Mundlos, S; Muragaki, Y; Giovannucci-Uzielli, M.L.; Majewski, F; McKeown, C;Reardon, W; Winter, R.M; Olsen, B.R; Scambler, P.J.

11.45 (SP27) Haploinsufficiency of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) gene as a possible cause ofdevelopmental defects in Gorlin syndromeReis, A; Hardy, CA; Steiljen, P; Obermayr, F; Burkhard, E; Neitzel, HM; Frischauf, AM;Farndon, PA

12.00 (SP28) Generation of a multi colour bar code by molecular cytogeneticsMuller, S; O'Brien, P; Ferguson-Smith, M A; Wienberg, J.

12.15 (SP29) A fluorescence in situ hybridisation (FISH) assay for sub-telomeric chromosome rearrangements inidiopathic mental retardationHorsley, Sharon; Knight, S; Regan, R; Brown, WRA; Nixon, J; Hilton-Jones, D; Huson, S; Clarke, G;Ledbetter DH; Riethman, H; Cardy, D; Flint, J; Kearney, L


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12.30-14.00 LUNCH AND POSTER VIEWING


14.00 (SP30) Factitious breast cancer family history: a new form of Munchausen syndromeEvans, DGR; Kerr, B; Foulkes W; Hadfield, LD; Hopwood P; Narod, SA

14.15 (SP31) Preliminary evidence for an imprinted X chromosome gene that influences social-cognitivedevelopmentSkuse, David; James, Rowena; Cave, Sarah; Dalton, Paola; O'Herlihy, Anne; South, Rikki; Jacobs, Patricia

14.30 (SP32) A clinical and genetic study of Wilson's diseaseMcEwan, Alec; Balac, PA; Curtis, D; Goodeve, A; Tanner, MS; Quarrell, OWJ

14.45 (SP33) Telling the children - a study of the process of discolure of genetic risk information in familiesSkirton, Heather

15.00 (SP34) A gene conversion event at the Huntington's CAG repeatBarron, Lilias; Warner, J; Fitzpatrick, D; Brock D.J.H.

15.15 (SP35) Clinical applications of mutation testing for X-linked hypohidrotic ectodermal dysplasiaClarke, A; Morgan, D; Kere, J; Lazerou, L; Thomas, NST

15.30 END OF CONFERENCE

PostersBiochemical genetics1.001 Apoplipoprotein E allele distribution in parents of affected children with trisomy 21 Maratou, Klio; Farrer, MJ; Howard, CM; Kessling, AM;

Davies, GE1.002 Infantile Insulin Dependent Diabetes Mellitus and Acute Liver Failure: a new autosomal recessive disorder? McHale,Duncan;

Bennett C.P; Haigh D;Holland P; Batman P.

Cancer genetics and cytogenetics2.001 A randomised trial of a genetic assessment service for familial breast cancer in Wales Gray, J, Anglim, C, Brain, K, Parsons, E, Clarke,

A, Sampson, J, Mansel, R, Roberts, E, Branston, L, Cohen, D, Mckell, D, Harper, P2.005 Assessment of aniridia patients using the WTI FISH probe to predict the development of Wilm's tumour McGaughran, Julie; Clayton-

Smith, J; Evans, DGE; Lloyd, IC; Gaunt, L; Dore, J Kingston, H; Donnai, D2.008 Common exon 2 mutafIons In Ashkenazi Jews Cochrane, Susan; Lalloo,F; Bulman, B; Ellis, R; Varley, J; Evans, DGR;2.009 Detailed deletion mapping of chromosome 17 at 17q11.2 defines a commonly deleted region of < 2 Mb in Barrett's

adenocarcinoma Garde, Julie; Dolan,K; Gosney,J; Sutton, R Meltzer,SJ; Field,JK2.010 Mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC) Risk,

Janet; Kelsell, DP; Bissell, HS; Leigh, IM; Stevens, HP; Ellis A; Reis A; Hennies HC; Bishop DT ; Spurr NK; Field JK2.012 Analysis of the p16 gene in oral squamous cell carcinomas Wu, Chu-Lee; Roz,; Sloan, P; Porter, S; Speight, P; Read, AP; Scully, C; Thakker N2.013 Mutations and alternative splicing of the BRCAI gene in UK breast/ovarian cancer families Xu, Chun-Fang; Chambers, JA; Nicolai, H;

Brown, MA; Hujeirat, Y; Mohammed, M; Hodgson, S; Kelsell, DP; Spurr, NK; Bishop, DT; Solomon, E2.014 Incidence of the BRCA1 5382insC mutation in sporadic breast and ovarian cancer patents. Mullen, Peter; Warner, J.P; Miller, W.R.; Langdon,

S.P; Mackay, J; Fitzpatrick, D.R; Brock, D.J.H2.015 Exclusion of xeroderma pigmentosum group A (XPA) as a candidate gene for multiple self-healing squamous epithelioma

(ESSI). Richards, Frances; Cooper, WN; Goudie, DR; Ferguson-Smith, MA2.016 Ataxic telangectasia and molecular study of a sibship with a very mild variant of Ataxic Telangectasia Kidd, Alexa; Haites, N; Bisset,

D; Stankovic, T; McGuire, GM; Biggs, P; Taylor, AMR2.017 BRCAI mutations in a systematic screen of a consecutive series of women with early onset breast or bilateral breast cancer

Eccles Diana; Engelfield Pat; Royle Gavin; Campbell Ian


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British Huiman Genetics Conference 1996

2.018 Mutation analysis of the BRCAI gene in familial and early onset sporadic breast cancer patients. Ellis, David; Greenman, J;Mohammed, S; Watts, S; Barnes, DM; Hodgson, SVH; Mathew, CG

2.019 Fluorescence in-situ hybridisation detection of abnormalities in chromosome 8p in squamous cell carcinomas of the head andneck Kuo, Michael; Armstrong, S; Crocker, J; Knowles, M; Neoptolemos, J; Morton, D

2.021 A novel human WNT gene, WNTIOB, maps to 12q13 and is expressed in human breast carcinomas Rankin, Julia; Huguet, EL; Bui, T;Smith, K; Ruben, S; Sharma, H; Strachan, T

2.022 BRCAI and BRCA2 germline mutations in male breast cancer patients Friedman, Lori; Gayther, SA; Kurosaki, T; Gordon, D; Noble, B; Anton-Culver, H; Ponder BAJ

2.023 Analysis of BRCAI and BRCA2 mutations in individuals from 43 Hungarian families with a history of breast and/or ovarian cancerRamus, Susan J; Jaray-Kote, Z; Gayther, S; Friedman ,L; Olah, E; Ponder, BAJ

2.024 Germline mutations of BRCAI and BRCA2 in familial ovarian cancer Gayther, SA; Russell, P; Harrington, P; Pharoah, P; Foster, K; DiCioccio;Easton, D; Ponder BAJ; The UKCCCR Familial Ovarian Cancer Study Group.

2.025 The application of FISH to buccal smear tissue in the detection of transient trisomy 21 related neonatal myeloproliferation.Maltby, Edna; Elliot, J

2.026 The expanding AFIO gene fmily Lillington, Debra; Chaplin, T; McCullagh, P; Saha, V; Lister, T; Young, B

General cytogenetics3.001 Two cases of unusual trisomy 18 mosaicism; Martin, Fiona; Slavotinek, A; Kingston, H3.002 Method for confirmation of prenatally detected aneuploidy using interphase FISH on touch preparations of fetal tissue Parsons,

Emma J; Gould, S3.003 Investigation of a mitotically stable marker chromosome lacking centromeric alpha satellite DNA Smith, Kim K; Chapman C3.004 Phenotypic variation in two cases with tissue specific trisomy 8 Smith, Kim K; Traherne J; Huson S3.005 Study of the small ring chromosomes found in a series of patients with Ring X Turner Syndrome Wilson, Liz; Armstrong, SJ; Keohane,

A; El Abd, S; Patton, MA; Hulten, MA3.006 Germline duplication of chromosome 2p with neuroblastoma Patel, Jatin S; Pearson J; Willat L; Andrews TA;Beach R; Green AJ3.007 De Novo direct duplication 14q(11.2-+13). Suri, Mohnish; Masters, K; Rodgers, C; Brueton, L.3.008 A rapid culture method for perinatal tissue samples Kitchen, Alison; Hardy, Graham; Hulten, Maj3.009 Clinical audit of seven years experience in early prenatal diagnostic testing for cytogenetic abnormality Waters, Jonathan; Hardy, G;

Newman, B; Leedham, P; Hulten M.3.012 Inv(10)(p11.2q21.2), a variant chromosome Collinson, Morag; Fisher, A; Walker, J; Currie, J; Williams, L; Roberts, P3.013 A cytogenetic and molecular study of a large series of patients with Turner syndrome Dalton, Paola; James, R; Skuse, D; Jacobs, P3.014 Validation of a sub-telomeric probe and its amplification in cytogenetic duplications of 8p with no detectable phenotypic effect

Joyce, Christine; Collinson, M; Barber, J3.015 Triplication of proximal chromosome 15q in association with inv dup(15); cytogenetic and molecular analysis Long, Fiona; Duckett,

D; Billan, L; Crolla, J3.016 Improved growth of solid tissues, including paediatric tumours, on coverslips under low oxygen tension. Ross, Fiona; Cockwell, A;

Fisher, A; Moore, K; Wells, S; Wilkinson, T; Crolla, J3.017 The use of a sub-telomeric repeat to characterise a subtle (4;9) translocation: a cautionary tale Wilkinson, Tracy; Joyce, C; Crolla, J3.018 Two patients with Turner syndrome and a Y chromosome Quilter, Claire; Taylor, K; Nathwani, NC; Delhanty, JDA3.019 Abnormal Offspring with Balanced Familial Reciprocal Translocations: A Study of the Chromosomes and Breakpoints Involved

with Regards to Fragile Site Linkage. Coles, Polly; Dyson, Michael John3.020 Two further cases of variation in band 8p23.1. Not always a benign variant? Williams, Lisa; Larkins, S; Roberts, E; Davison, E.V3.021 Recurrent miscarriage in association with a mosaic translocation between homologous chromosomes. Smith; Philip; Chia; KV; Small;

F; Timothy; J

Prenatal genetics/diagnosis and cytogenetics4.001 Duplication and deletion of 5q22q23 in several offspring resulting from an inter chromosomal insertion in the parent. Hastings,

Rosalind; Setterfield, B; Morgan, H; Broadhurst, E; Delhanty ,J4.002 Infertile couples with Robertsonian transloctions: FISH analysis of preimplantation embryos reveals chaotic cleavage divisions.

Delhanty, Joy; Conn, CM; Harper, JC4.003 Improving the molecular diagnosis for facioscapulohumeral muscular dystrophy (FSHD). M Upadhyaya, J Maynard, M Rogers, P Lunt,

D Ravine, PS Harper.4.004 Prenatal diagnosis of trisomy 2 mosaicism Robinson, Jacqueline; Stewart, H; Gaunt, KL4.005 A case with two de novo rearrangements with multiple breakpoints involving chromosomes 11 and 15, detected prenatally

Vickers, Susan; Felix, C; Roberts, E; Davison, E.V4.006 Prenatal diagnosis of maternal uniparental heterodisomy 15 following detection of trisomy 15 mosaicism in amniotic fluid cell

culture Roberts, Selwyn H; Meredith, AL; Curtis, MA; Morgan, SM; Howard, PJ; Mountford, R; Edwards, JA4.007 Chromosome analysis and detection of mosaic karyotypes in 6-8 day old human blastocysts Clouston, Hazel; Wolstenholme, J; Fenwick,

J; Webb, A; Herbert, M; Murdoch, A4.008 Prenatal diagnosis of mosaic trisomy 8 with detailed investigations of the extent and origins of the chromosomes 8. Webb, Alison;

Evans, J; MacPhail, S; Goodship, J; Wolstenholme, J4.009 The prenatal diagnosis of epidermolysis bullosa simplex Baty, David; Rugg, E; Shemanko, C; Lane, E.B; Boxer, M4.010 Incidence of 22q11 deletion and karyotype abnormalities in fetuses with cardiac abnormalities detected prenatally. Raymond F

Lucy; Mackie C M; Simpson J; Sharland G


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Clinical Genetics5.001 Uniparental disomy in a case with ambiguous genitalia Dundar, MunisAcar, H, Kurtoglu, S- Demiryilmaz. F KuSukaydin, M

5.002 A case of Weismann-Netter with hydrocephalus and arachnoid cyst Kurtoglu, Selim, Dundar, M Caksen, H, Uzum, K Durak AC, Gunduz Z

5.003 Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: A delineated entity emerging. SabryMohamed; Zaki, M; Al-Awadi S: Al-Saleh, Q; Matter M; Farag T

5.004 Behr syndrome with an X-linked mode of inheritance Farah, Samir, Sabry M; Qasrawi B, AI-Shubaili A, Al-Khattam S, Hasseeb H, Al- Busairi WAl-Awadi S

5.005 Phenotypic Heteogeneity of Carbonic Anhydrase 11 deficiency syndrome in a Bedouin sibship with the "Arabic" mutation Ismai,Essam; Abul-Saad, S; Sabry MA

5.006 Psychometric analysis and ocular involvement in congenital muscular dystrophy: correlation with muscle laminin 2 expressionPike, Alison; Butcher,J; Kelsey,A; Tarnoke,C; Jardine,P

5.007 User satisfaction in predictive testing for HD - the use of focus groups Shakespeare, Jayne, Guilbert, P, McGhee, E5.008 Genetic heterogeneity in autosomal recessive hereditary spastic paraplegia Mitchell, Simon5.009 Genetic testing of children: psychological impact Michie, Susan; Bobrow M;Marteau TM5.010 Folic acid prevents recurrence of neural tube defects in high prevalance area Kulkarni, ML; Jose, S; Akram S5.011 Familial primary spontaneous pneumothorax exhibiting true autosomal dominant inheritance. Morrison, Patrick J, Lowry, R; Nevin, NC5.012 Aicardi Ataxia - A second case in two siblings confirming autosomal recessive inheritance Morrison, Patrick J; Hicks EM; Gibson JM,

Nevin NC5.013 Childhood neuronal ceroid-lipofuscinosis in the West of Scotland 1974-1995 Crow, Yanick; Tolmie, JL; Howatson, AG; Patrick, WJA,

Stephenson, JBP5.014 Multiple coagulation factor deficiencies in the congenital bleeding disorder of Noonan syndrome Brady, Angela F; Hatzis, T; Archer, J,

Talbot, S; Patton, M A; Bevan, D H5.016 Familial patent ductus arteriosus - a further case of CHAR syndrome Slavotinek, Anne; Clayton-Smith, J; Super, M5.017 Knowledge and awareness among men in breast cancer familie McAllister, Marion; Daly, P; Ormiston, W; Williamson, P; Evans, G5.018 A new autosomal dominant syndrome of blepharochalasis, short stature, joint laxity, cardiac and urogenital defect Wilson, Louise;

Kerr, B; Super, M5.019 Analysis of families with keratoconus and atopy Black, Graeme; Clayton-Smith, J; Downes, S5.024 Determination of the parental origin of the extra X chromosome in two brothers with Klinefelter's syndrome from a

consanguineous pedigree Woods, Geoff; Noble, J5.025 Huntington's Disease after the gene - diagnostic difficulties remain. EM Rosser, B McDonald, G Norbury, SM Huson5.027 Maternal uniparental isodisomy of chromosome 14 resulting from i(14q) formation Penman Splitt, Miranda; Cross, I; Goodship, J5.028 A reliable diagnostic test for the S and Z mutations in the alpha-1-antitrypsin gene. McKechnie, Douglas; Duxbury, N; Robertson, N H,

Whitcombe, D; Ferrie, R M; Webb, M B T; Little, S5.029 Development of an ARMS(TM) screening test for the detection of 12 common European mutations of the CFTR gene. Kelly, Stephen;

Weston, S L; Robertson, N H; Little, S5.030 Marfan syndrome, MASS phenotype and chromosome 3 Dean, John; Davidson C;Boxer M5.031 Partial trisomy 22 including the CATCH 22 locus associated with 1lq;22q translocation. Gregory Helen, Massie D, Baruni J, Stephen GS,

Dean JCS.5.032 Two patients with insulin resistance and lipodystrophy Moore, Sue; Auchterlonie, IA; Cole, GF; Duffty P; Gray, ES; Dean JCS5.033 Clinical study of a new case of acrofacial dysostosis - Catania form Rusu, Cristina; Volosciuc, M; Covic, M; Haba, D5.035 Chromosome 18q deletion associated with Beckwith-Wiedemann syndrome Brewer, Carole; Maher, ER; Hayward, C; FitzPatrick, DR.5.036 Fragile X syndrome in a consanguineous Muslim Asian family Williams, Denise; Linforth, GH; Mukaddam, F; Duckett,D; Barrow M5.037 Reporting times in family studies for Fragile X: a rock and a hard place. Dalton, Ann; Curtis, D; Giblin, C; Johnson, M; Cook, J; Quarrell, 05.041 Agenesis of the corpus callosum in two patients with ring X Tumer syndrome El Abd, Samaa; Patton, MA; Wilson, L5.043 Clinical variability of the 17pl.2 duplication in CMTIA Marques Jr, Wilson; Davis, MB; Sweeney, MG; Wood, NW; Thomas, PK5.044 A patient with spinal and bulbar muscular atrophy (Kennedys disease) and an intermediate expansion in the androgen receptor

gene Bourn, David; Cole, T; Ward, A5.045 Complementary molecular and cytogenetic diagnosis of Angelman syndrome in a 52 year old woman Rindl, Max; Simpson, P; Waters,

J; Roy, A, Macdonald, F5.046 Familial Sotos Syndrome Suri, Mohnish; Garrett, C; Siva-Kumar, P5.047 Further evidence for an emerging matemal uniparental disomy chromosome 14 syndrome: Analysis of a phenotypically

abnormal de novo Robertsonian translocation t(13;14) carrier. McQuaid, Shirley; Geraghty, M; Stallings, R; Barton, DE; Griffin, E; Geraghty, M5.048 Cancer genetics knowledge and views of doctors and nurses treating cancer patients. Chorley Wendy; MacDermot K5.049 Natural history of Anderson Fabry disease in theUK MacDermot Kay; Gorecki D; Novo J5.050 Follow up of the huntington's disease predictive test group; early days, early signs. Simpson, Sheila A; Moore, J, Emslie LE5.051 Hallevorden-Spatz disease: presentation as stammer at 18 years Simpson, Sheila A; King, DJ; Robb, 0; McKinnon, A

Counselling/education/screening6.001 Defining the skills and knowledge base of genetic nursing practice Guilbert, Penny6.002 The objectives of genetic counselling: a comparison of patients' and professionals' views Allanson, Abi; Michie S; Bobrow M; Marteau

TM6.003 Genetic counselling: The psychological impact of meeting patients' expectations Michie, Susan; Bobrow M;Marteau TM6.004 Educating the public about genetics: a niche for a high street Gene Shop. Super, Maurice; Kerr, B; Harrison, 5; Willis L; Grice, P; Durrant Y,

Roberts T, Milner K.


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6.005 Survey of attitudes of pregnant women towards Down's syndrome screening in ante-natal clinics AL-Jader, Layla; Parry-Langdon,Nina; Smith, Bill

6.006 Is A Clinical Genetics Service better than no service at all? A "Controlled trial". Morrison, Patrick J; Darragh, PM6.008 Syndrome Diagnosis - The Parent's View Hall, Georgina, Kerzin-Storrar, L., Donnai, D.6.009 Content and provision of genetic counselling: general practitioners' knowledge and opinions Belk, Rachel; Williamson, P; Kerzin-

Storrar, L6.010 Audit of Telephone Activity by Genetic Nurse Specialists Maghee, Eleanor; Guilbert, P; Hewitt, M; Snook, S; Wilde, M6.011 Genetic Registers for Primary Care Hamris, HJ6.012 Investigation and Counselling of a Homologous Robertsonian Translocation Carrier with a Cytogenetically Normal Offspring

Smith, Kim K; Traherne J; Hurst J A6.013 Improving information giving in clinical genetics: the effectiveness of tape recording the clinic consultation Curtis, Greta6.015 A review of the effect of surveillance on outcome for women considered to be at increased risk of developing breast cancer.

Heap, Elizabeth; Bradburn, M; Altman, D; Fentiman, I; Hodgson, S6.016 Assisted reproduction in male cystic fibrosis patients with congenital bilateral absence of the vas deferens. Kumar, Anju; Lenton,

Elizabeth A; Evans, Steven; Kumar, Dhavendra; Cooke, Ian D6.017 Managing families with children at risk of autosomal dominant polycystic kidney disease. Clarke, Angus; Brindle, L; Verrier-Jones, K;

Davies, F; Parsons, EP6.018 Testing children to identify carriers of balanced chromosomal translocations Jolly, Anita; Parsons, EP; Clarke, AJ6.019 Triplet repeat frequencies observed in Fragile X screening in the Yorkshire region 1994 to 1996 Logan, Peter; Robinson, MD; Taylor,

GR6.020 Sudden Unexpected Unexplained Death in Tuberous Sclerosis Mueller, Robert; Falconer C; Hunt A

Epidemiology/population genetics7.002 Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and

meta-analysis. Rubinsztein, David C (1); Leggo, J (1); Goocburn, S (2); Walsh, C (3); Jain S (3,4); Paykel ES (3)7.003 A survey of microdeletion of chromosome 22q 11 in congenital heart disease using D22S75 probe Yong, Diana; Booth, P; Massie, D;

Baruni, J; Stephen,G; Couzin, D; Dean, JCS7.005 Common BRCAI gene variants and susceptibility to breast and ovarian cancer Dunning, Alison M; Chiano, M; Smith, N; Dearden, J;

Stratton, M; Easton, D;Clayton, D; Ponder, BAJ7.006 Network analysis of human Y microsatellite haplotypes Cooper, Gillian; Amos, W; Hoffman, D; Rubinsztein, D CGene structure and regulation8.001 The structures of members of the glycerol kinase gene family and identification of alternatively spliced X gene transcripts

Sargent, Carole; Affara, N8.002 The Drosophila Developmental Gene Fat Facets Has a Human Homologue in Xp11.4 which Escapes Xinactivation and Has Related

Sequences on Yq11.2. Michael H. Jones, Robert A. Furlong, Heather Burkin, I. Jennifer Chalmers, Graeme M. Brown, Omar Khwaja and Nabeel A.Affara

8.004 Analysis of the 1A1.3B gene and the adjacent breast cancer susceptibility gene, BRCAI, in mouse Chambers, Julie; Grffiths, B;Nicolai, H; Brown, M; Xu, C-F; Solomon, E

8.005 Truncated endothelin receptor A transcript in human melanoma cell lines Zhang, Yufeng; Jeffery, S; Wilson, CA; Kaski, JC; Bennett, D;Easty, DJ; Thody, AJ; Burchill, SA; Carter, ND

8.006 Structure and function of the glucokinase regulatory protein (GCKR) and ketohexokinase (KHK) genes Bonthron, David; Hayward, BE;Dunlop, N; Intody, S; Leek, J; Markham, AF; Warner, JP

8.007 Gender differences in age-of-onset of Huntington's disease related to CAG repeat length and apolipoprotein E genotype. Kehoe,Patrick; Krawczak, M; Snell RG; Liddell, M; Harper, PS; Owen, M; Jones AL

8.008 Membrane-associated huntingtin occurs in a higher molecular weight complex than soluble huntingtin Wood Jonathan D; HarperPS; Jones AL

8.009 Two splice mutations in the ATR-X gene Gibbons, Richard; Picketts, DJ; Bachoo, S; Higgs DR;

Differentiation and development9.002 Structural characterisation and chromosomal mapping of novel human Wnt genes and their expression in early development.

Lindsay, Susan; Lako, M; Bullen, P; Robson, SC; Harris, A; Strachan, T

ULnkage mappingxmarker polymorphisms10.001 Linkage analysis and clinical studies in British families with dominant optic atrophy Seller, Mary; Behnam, J; Spalton, D; Johnston, R;

Burdon, M10.002 Molecular Studies in Rett Syndrome: A 1996 Update. Thomas, Nick; Webb, T; Davies, K; Williams, N; Pereira, J; Kerr, A; Anvet, M; Hanefeld, F;

Clarke, A10.003 Informativity of Wiskott-Aldrich syndrome (WAS) gene linked marker at locus DXS6940 in different ethnic groups Thompson, Lisa J;

Lalloz, MRA; Layton DM10.004 Progressive familial intrahepatic cholestasis (Byler disease): Evidence that the disease haplotype in the Old Order Amish is also

found in the Irish "Traveller' population. Barton, David E; McQuaid, S; Bourke, B; Carlton, VE; Bull, L; Freimer, NB; Walsh, D, Knisley, AS; Drumm,B

10.006 Paget's disease of bone: evidence for linkage to chromosome 18q and for genetic heterogeneity Haslam, Sonya; Haites, N;Thompson, J;, Ralston, S


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10.007 Mapping susceptibility genes for inflammatory bowel disease Mirza, Mudassar; Lee, John, Naom,Isam, Ford, Deborah, Hugot, Jean-PierreLaurent-Puig, Pierre; Hodgson, Shirley; Thomas, Gilles; Easton, Douglas; Lennard-Jones, John; Mathew, Christopher

10.008 Comeal stem cell graft Mccall, Sam Henderson, TRM; Noble BA; Taylor GR

Physical mapping11.001 A YAC and cosmid contig spanning the Cystinosis gene region of human chromosome 17p13 Attard, Marlene; Bates, G, van't Hoff, WI

Antignac, C;Jean, G; Mathew, C; Town, M11.002 Identification of a candidate Fanconi Anaemia Group A gene by positional cloning Gibson, Rachel; Tipping, A; Morgan, N; Hassock, S,

Mathew, C and the FAB consortium11.003 X-linked retinoschisis: linkage, physical mapping and isolation of candidate genes Trump, Dorothy; Walpole S.M.; Nicolaou A.; George

N.D.L.; Moore A.T.; Yates J.R.W.11.004 Physical mapping in the Xp22.1 - Xp22.3 region of the human X chromosome. Dineen, Tim; Powell, R.; Houghton, J.A.

Molecular cytogenetics12.001 Analysis of Meiotic Segregation in Human Nondecondensed Interphase Spermatozoa by Multicolor rapid Direct FISH Halder

Ashutush; Tutschek Boris12.002 Cytogenetic and FISH analysis of two Y-positive XX males: one involving a rare XqlYp interchange Waters, Jonathan; Gould, C;

Mercer, A; Hulten M12.003 A study of the confirmation of prenatally diagnosed autosomal trisomies by interphase FISH. Young, Jillian; Morris, A; Imrie, S; Lowther,

G12.005 Duplication of the 15q11.2 region in a patient with a t(5;15)(q13;q11.2) with no apparent phenotypic effect McMullan, Dominic; Larkins,

S; Davis, G; Famdon, P; Davison, E.V12.008 Identification of three different small supernumerary chromosomes by molecular cytogenetics in a child with developmental

delay and mild dysmorphism Jackson, Ann; McArdle, A12.009 A complex rearrangement involving a chromosome 7 and a chromosome 18 characterised by fluorescence in situ hybridisation

studies(FISH) Campbell, Carolyn; Rodgers, C; Ellis, R; Holder, S

Laboratory techniques in molecular genetics13.002 Development of mini gene constructs of the adenomatous polyposis coli gene West, Sarah; Hamzehloei, T; Buddies, M; Curtis, A13.003 Experience of a regional molecular genetics laboratory in diagnosing HMSNla and HNPP using a collection of polymorphic

markers Williams, Maggie; Tyfield, LA; Lunt, PW; Tumpenny, PD13.004 Detection of dystrophin rearrangements by pulsed field gel electrophoresis (PFGE) in male Duchenne and Becker muscular

dystrophy (DMD,BMD) where no deletion has previously been identified Cockbum, David; Clouston, P; Hopkin, J; Seller, A13.005 Cost analysis of dystrophin point mutation detection by reverse transcription - polymerase chain reaction Nixon, John; Cockburn, DJ;

Hopkin, J; Seller, A; Huson, S13.006 Identification of an individual mosaic for Tumer syndrome and a carrier of the FMR-1 expansion mutation. Sharif, Abid; Pindar, L;

Cooper, C Ritchie, S J; McGhee, E; Cross, G S13.007 An atypical case of Prader-Willi displaying abnormal methylation patterns with normal biparental inheritance Carpenter, Karen;

Sharif, A L; Young, I D; Heath, M; Cumock, D; Cross, G S13.008 Towards the fully automated identification, mutation analysis and routine diagnosis of Human Disease Genes Henfrey, Richard13.009 Cystic Fibrosis mutation detection by modified PCR restriction enzyme digest Palmer, Sheila

Mutation analysis14.001 Increased robustness and efficiency for the Duchenne muscular dystrophy protein truncation test Whittock, Neil; Roberts, R; Mathew,

C;Abbs, S14.003 Mutation and haplotype analysis in 10 asian families with spinal muscular atrophy McHale,Duncan; Leach, K; Bennett C.P; Mueller R.F,

Woods C.G14.004 Identification of mutations within a potential candidate gene for X-linked hypohidrotic ectodermal dysplasia. Thomas, Nick; Morgan,

D ; Lazarou, L; Munoz, F; Zonana, J; Kere, J; Srivastava, A; Clarke, A14.005 Increased incidence of a patemal origin of new mutations in X-linked myotubular myopathy: Evidence from linkage-based

analysis and direct mutation screening of the MTMI gene. Lazarou, Lazarus; Meredith, AL; Clarke, A; Thomas, NST14.006 Human Gene Mutation Database Cooper, David and Krawczak, M.14.007 Mutational and Functional analysis of the Neurofibromatosis type I (NFl) gene Meena Upadhyaya, Mike Osborn, Julie Maynard, Mee rhan

Kim, Fuyuhiko Tamanoi, David N Cooper14.008 Factor Vil gene mutation analysis Lalloz, Michel RA; Lambert, CT; Layton, DM14.009 Deletion screening in the GPC3 gene in European cases of Simpson-Golabi-Behmel Syndrome (SGBS) Bum J; Ireland M; Pilia G;

O'Brien 0; Clayton-Smith J; Hurst J; Schlessinger D; Lindsay S14.010 OCRL-1 gene structure and OCRL-1 mutations in Lowe syndrome patients Wallace, Andrew; McKeown, Carole; Tassabehji, May14.011 Mutation analysis in the BRCAI gene in the Grampian Region Schofield, Andrew; Gregory, H; de Silva, D; Haites, N14.012 Ataxia with isolated vitamin E deficiency in UK fmilies Wood, Nicholas; Sweeney, MG; Williams, L; Davis, MB; Harding, AE14.013 GTP cyclohydrolase I mutations in patients with anticholinergic responsive dystonia Jarman, Paul; Wood, NW; Harding, AE14.014 Lebers hereditary optic neuropathy associated with a new mutation at position 14484 of the mitochondrial genome. Sweeney,

Mary; Nelson, I; Davis, MB; Wood, NW; Levy,


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14.015 Genetic studies in multiple system atrophy Bandmann, Oliver; Sweeney, MG; Daniel, SE; Wenning, GK; Quinn, N; Marsden, CD; Wood, NW14.017 The homogeneous detection of PCR products by fluorescence polarisation Gibson, Neil; Gillard, H L; Ferrie, R M; Whitcombe, D; Little, S14.018 The molecular pathology of epidermolysis bullosa simplex with muscular dystrophy: cloning of the human plectin gene and

mutations in four MD-EBS families. McLean, W. H. Irwin; Pulkkinen, L; Smith, F. J. D; Shimizu; H, Eady, R. A. J; Leigh, 1. M; Lane, E. B and Uitto, J.14.019 A small intraexonic deletion within the dystrophin gene suggests a mechanism of mutagenesis Bunyan, David; Robinson, D; Yau, S;

Gabb, H; Temple,14.021 Stability of borderline normal-premutated alleles at the FRAXA locus within a fragile X pedigree Mitchell,Andrea; Donaldson,A;

Macdonald,F; Hulten,M14.022 Mutation analysis of the APC gene. Macdonald, F; Wallis, Y; McKay, S; Morton, D14.023 Mutation screening in HNPCC fmilies by PTT and SSCP analysis. Bourn, David; Perring, S; Cole, T; Mckeown, C; Macdonald, F14.024 Characterization of a new apolipoprotein CIII variant in the Mayans of the Yucatan peninsula Liu, Haiqun; Xu, C; Lins, L; Ferrell, R;

Humphries, S; Talmud, P14.025 Comparison of T4 EVII and MutS enzyme based mutation detection methods with SSCP for CFTR exons 3 and 11 Deeble, Jayne;

Ellis, LA; Laitinen, VH; Woods, GC; Taylor, GR14.026 Mutation analysis in a family with X-SBMA Dalton, Ann; Durkie, M; Evans, S; Curtis, D14.027 A novel 7-bp deletion in the BRCA2 gene in a family with a history of breast cancer Ghaffari, Guity; Lanyon, G; Davidson, R; Connor, J14.028 Three novel mutations and two normal variation in the hMSH2 gene in Scottish families with colorectal carcinoma Davoodi,

Abdoreza; Lanyon, G; Davidson, R; Connor J


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Programme Monday September - jmg.bmj.com · PArana(Madrid) 11.35Meioticsegregationstudies ofintactmouseoocytes RLeMaire (Cleveland) 10. 30-12.30 WORKSHOPSFOR CLINICAL MOLECULAR GENETICSSOCIETY