Table of contents

Research Article

• Fragile X syndrome is less common than previously estimated. (1 January, 1997)

  J E Morton, S Bundey, T P Webb, F MacDonald, P M Rindl, S Bullock
• Maternal uniparental disomy 7 in Silver-Russell syndrome. (1 January, 1997)

  M A Preece, S M Price, V Davies, L Clough, P Stanier, R C Trembath, G E Moore
• No evidence for uniparental disomy as a common cause of Sotos syndrome. (1 January, 1997)

  M Smith, P Fullwood, Y Qi, S Palmer, M Upadhyaya, T Cole
• Clinical, cytogenetic, and molecular analysis of three families with FRAXE. (1 January, 1997)

  A J Barnicoat, Q Wang, J Turk, E Green, C G Mathew, G Flynn, V Buckle, M Hirst, K Davies, M Bobrow
• At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation. (1 January, 1997)

  D Smeets, C van Ravenswaaij, J de Pater, K Gerssen-Schoorl, J Van Hemel, G Janssen, A Smits
• 46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. (1 January, 1997)

  C P Venditti, N K Seese, G S Gerhard, A E Ten Elshof, K A Chorney, P N Mowrey, P G Lacey, J H Knoll, M J Chorney
• Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus. (1 January, 1997)

  R S Ajioka, P Yu, J R Gruen, C Q Edwards, L M Griffen, J P Kushner
• Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. (1 January, 1997)

  J Shen, H M Liu, Y Bao, Y T Chen
• Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. (1 January, 1997)

  I P Tomlinson, N E Beck, T Homfray, C J Harocopos, W F Bodmer
• Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. (1 January, 1997)

  V Timmerman, B Rautenstrauss, L T Reiter, T Koeuth, A Löfgren, T Liehr, E Nelis, K D Bathke, P De Jonghe, H Grehl, J J Martin, J R Lupski, C Van Broeckhoven
• Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH. (1 January, 1997)

  M Nadal, S Moreno, M Pritchard, M A Preciado, X Estivill, M A Ramos-Arroyo
• Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb. (1 January, 1997)

  J Zguricas, P F Dijkstra, E S Gelsema, P J Snijders, H P Wüstefeld, H W Venema, S E Hovius, D Lindhout
• Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease. (1 January, 1997)

  A Tibben, M Stevens, G M de Wert, M F Niermeijer, C M van Duijn, J C van Swieten
• Carbohydrate deficient glycoprotein (CDG) syndrome type I. (1 January, 1997)

  J Jaeken, G Matthijs, R Barone, H Carchon
• Fortuitous detection of uniparental isodisomy of chromosome 6. (1 January, 1997)

  M C Bittencourt, M A Morris, J Chabod, A Gos, B Lamy, F Fellmann, S E Antonarakis, E Plouvier, P Herve, P Tiberghien
• Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? (1 January, 1997)

  S Worthington, A Colley, K Fagan, K Dai, A H Lipson
• Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada. (1 January, 1997)

  F Y Choy, J Linsey, P D MacLeod
• De novo deletions in spinal muscular atrophy: implications for genetic counselling. (1 January, 1997)

  V Raclin, P S Veber, L Bürglen, A Munnich, J Melki