Table of contents

Research Article

• Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. (1 March, 1997)

  V des Portes, J M Pinard, D Smadja, J Motte, O Boespflüg-Tanguy, M L Moutard, I Desguerre, P Billuart, A Carrie, T Bienvenu, M C Vinet, L Bachner, C Beldjord, O Dulac, A Kahn, G Ponsot, J Chelly
• Hereditary spinal neurofibromatosis: a rare form of NF1? (1 March, 1997)

  M Poyhonen, E L Leisti, S Kytölä, J Leisti
• Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. (1 March, 1997)

  M C Digilio, B Marino, A Giannotti, A Toscano, B Dallapiccola
• Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. (1 March, 1997)

  R H Flomen, P A Gorman, R Vatcheva, J Groet, I Barisić, I Ligutić, D Sheer, D Nizetić
• A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. (1 March, 1997)

  R Tupler, G L Marseglia, M Stefanini, E Prosperi, L Chessa, T Nardo, A Marchi, P Maraschio
• Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. (1 March, 1997)

  R Wallerstein, C E Anderson, B Hay, P Gupta, L Gibas, K Ansari, F S Cowchock, V Weinblatt, C Reid, A Levitas, L Jackson
• A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. (1 March, 1997)

  J A Crolla, J E Cawdery, C A Oley, I D Young, J Gray, J Fantes, V van Heyningen
• Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. (1 March, 1997)

  K Narahara, E Baker, S Ito, Y Yokoyama, S Yu, D Hewitt, G R Sutherland, M R Eccles, R I Richards
• Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies. (1 March, 1997)

  C Mignon, F Parente, C Stavropoulou, P Collignon, A Moncla, C Turc-Carel, M G Mattei
• Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. (1 March, 1997)

  A Bobba, A Iolascon, S Giannattasio, M Albrizio, A Sinisi, F Prisco, F Schettini, E Marra
• Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence. (1 March, 1997)

  J S Rubinsztein, D C Rubinsztein, P J McKenna, S Goodburn, A J Holland
• Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats. (1 March, 1997)

  D C Rubinsztein, J Leggo
• Genetic counselling: the psychological impact of meeting patients' expectations. (1 March, 1997)

  S Michie, T M Marteau, M Bobrow
• De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR). (1 March, 1997)

  J Garcia-Heras, J A Martin, S F Witchel, P Scacheri
• Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child. (1 March, 1997)

  J Dean, G Cohen, J Kemp, L Robson, V Tembe, J Hasselaar, B Webster, A Lammi, A Smith
• Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal. (1 March, 1997)

  R Willemsen, F Los, S Mohkamsing, A van den Ouweland, W Deelen, H Galjaard, B Oostra
• Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. (1 March, 1997)

  C P Chen, S L Shih, F F Liu, S W Jan
• Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. (1 March, 1997)

  M Ruggieri, C Carbonara, G Magro, N Migone, S Grasso, A Tinè, L Pavone, M R Gomez
• Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy. (1 March, 1997)

  J Slee, J Goldblatt
• Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene. (1 March, 1997)

  C Holzmann, A M Saecker, J T Epplen, O Riess