Table of contents

Research Article

• The fragile X syndrome. (1 December, 1991)

  P A Jacobs
• Cloning of the gene for the fragile X syndrome: implications for the clinical geneticist. (1 December, 1991)

  J M Connor
• 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). (1 December, 1991)

  T Webb
• Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. (1 December, 1991)

  R I Richards, K Holman, H Kozman, E Kremer, M Lynch, M Pritchard, S Yu, J Mulley, G R Sutherland
• Genotype prediction in the fragile X syndrome. (1 December, 1991)

  M C Hirst, Y Nakahori, S J Knight, C Schwartz, S N Thibodeau, A Roche, T J Flint, J M Connor, J P Fryns, K E Davies
• Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. (1 December, 1991)

  F Rousseau, D Heitz, I Oberlé, J L Mandel
• A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis. (1 December, 1991)

  M J Griffiths, M C Strachan
• Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. (1 December, 1991)

  D O Sillence, A A Chiodo, P E Campbell, W G Cole
• The midline craniofacial skeleton in holoprosencephalic fetuses. (1 December, 1991)

  I Kjaer, J W Keeling, N Graem
• Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus. (1 December, 1991)

  R I Richards, K Friend
• Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. (1 December, 1991)

  D R Love, T J Flint, S A Genet, H R Middleton-Price, K E Davies
• Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families. (1 December, 1991)

  H Schuster, G Rauh, C Gerl, C Keller, G Wolfram, N Zöllner
• Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. (1 December, 1991)

  S Strautnieks, P Rutland, S Malcolm
• A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease. (1 December, 1991)

  G Chalkley, A Harris
• A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. (1 December, 1991)

  M Schloesser, S Arleth, U Lenz, R M Bertele, J Reiss
• Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). (1 December, 1991)

  R F Ogle, P Dalzell, G Turner, D Wass, M Y Yip
• Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. (1 December, 1991)

  J H Begeer, F A Scholte, A J van Essen
• Phenotypic expression of the first liveborn 68,XX triploid newborn. (1 December, 1991)

  P Merlob, N Naor, M Shohat