Table of contents

Research Article

• CATCH 22. (1 October, 1993)

  J G Hall
• DiGeorge syndrome: an historical review of clinical and cytogenetic features. (1 October, 1993)

  F Greenberg
• Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. (1 October, 1993)

  E Goldmuntz, D Driscoll, M L Budarf, E H Zackai, D M McDonald-McGinn, J A Biegel, B S Emanuel
• Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. (1 October, 1993)

  D A Driscoll, J Salvin, B Sellinger, M L Budarf, D M McDonald-McGinn, E H Zackai, B S Emanuel
• Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). (1 October, 1993)

  R Wadey, S Daw, A Wickremasinghe, C Roberts, D Wilson, J Goodship, J Burn, S Halford, P J Scambler
• Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. (1 October, 1993)

  J Burn, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship
• Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. (1 October, 1993)

  S E Holder, R M Winter, S Kamath, P J Scambler
• High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. (1 October, 1993)

  D F Callen, H Eyre, S Lane, Y Shen, I Hansmann, N Spinner, E Zackai, D McDonald-McGinn, S Schuffenhauer, J Wauters
• CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. (1 October, 1993)

  K Will, J Reiss, M Dean, M Schlösser, R Slomski, J Schmidtke, M Stuhrmann
• Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. (1 October, 1993)

  A Meindl, D Hosenfeld, W Brückl, S Schuffenhauer, J Jenderny, A Bacskulin, H C Oppermann, O Swensson, P Bouloux, T Meitinger
• Genetic heterogeneity of Usher syndrome type II. (1 October, 1993)

  S Pieke Dahl, W J Kimberling, M B Gorin, M D Weston, J M Furman, A Pikus, C Möller
• Upper and lower neural tube defects: an alternate hypothesis. (1 October, 1993)

  B H Garabedian, F C Fraser
• DiGeorge syndrome: part of CATCH 22. (1 October, 1993)

  D I Wilson, J Burn, P Scambler, J Goodship
• Disease gene mapping in isolated human populations: the example of Finland. (1 October, 1993)

  A de la Chapelle
• Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. (1 October, 1993)

  L Kozák, P Chiurazzi, M Genuardi, M G Pomponi, M Zollino, G Neri
• Orofaciodigital syndrome type III in two sibs. (1 October, 1993)

  R A Smith, D Gardner-Medwin
• Sex linked valvular dysplasia. (1 October, 1993)

  R A Newbury-Ecob, J M Zuccollo, N Rutter, I D Young
• Airway abnormalities in Jarcho-Levin syndrome: a report of two cases. (1 October, 1993)

  M Schulman, M T Gonzalez, M R Bye
• Long survival of a patient with Marshall-Smith syndrome without respiratory complications. (1 October, 1993)

  D Sperli, D Concolino, C Barbato, P Strisciuglio, G Andria
• Prenatal diagnosis of a giant intracranial teratoma associated with pulmonary hypoplasia. (1 October, 1993)

  L K Weyerts, V Catanzarite, M C Jones, A Mendoza
• Severe developmental delay and multiple strawberry naevi: a new syndrome? (1 October, 1993)

  C J Upton, I D Young
• Chromosome abnormalities and Williams-Beuren syndrome. (1 October, 1993)

  A Gosch, R Pankau
• Counselling pitfalls in Romano-Ward syndrome. (1 October, 1993)

  J C Dean, S Cross, K Jennings