Table of contents

Research Article

• The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. (1 May, 1991)

  J Burn, P Chapman, J Delhanty, C Wood, F Lalloo, M B Cachon-Gonzalez, K Tsioupra, W Church, M Rhodes, A Gunn
• Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. (1 May, 1991)

  A Verloes, S Aymé, D Gambarelli, M Gonzales, M Le Merrer, N Mulliez, N Philip, J Roume
• A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. (1 May, 1991)

  S Abbs, S C Yau, S Clark, C G Mathew, M Bobrow
• Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastoma. (1 May, 1991)

  Z Onadim, J K Cowell
• The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. (1 May, 1991)

  A E Shrimpton, I McIntosh, D J Brock
• What do young people think about screening for cystic fibrosis? (1 May, 1991)

  E Cobb, S Holloway, R Elton, J A Raeburn
• Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France. (1 May, 1991)

  C Stoll, Y Alembik, B Dott, M P Roth
• Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. (1 May, 1991)

  A Clarke, J Burn
• Adult polycystic kidney disease in a kindred of West Indian origin exhibits linkage with the 3'HVR probe on chromosome 16. (1 May, 1991)

  S Jeffery, A J Wing, M Patton
• Somatic recombination may explain linear psoriasis. (1 May, 1991)

  R Happle
• Coffin-Siris syndrome. (1 May, 1991)

  P Levy, M Baraitser
• Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. (1 May, 1991)

  R Pallotta
• Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. (1 May, 1991)

  Z Borochowitz, B Glick, S Blazer
• Hypercoagulability in a patient with Marfan syndrome. (1 May, 1991)

  J E Humphries, G A Stouffer, T E Kelly, C E Rose
• Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. (1 May, 1991)

  A Schinzel, F Binkert, D M Lillington, M Sands, R J Stocks, R H Lindenbaum, H Matthews, H Sheridan
• A new folate sensitive fragile site at 1p21.3. (1 May, 1991)

  E Baker, G R Sutherland
• Prevalence of fragile X syndrome. (1 May, 1991)

  T Webb, S Bundey
• HLA markers, hormones, and disease. (1 May, 1991)

  W H James