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. 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, and J Chelly J Med Genet 1997; 34: 177-183. doi:10.1136/jmg.34.3.177 [Abstract] [PDF] [Request Permissions]
	Hereditary spinal neurofibromatosis: a rare form of NF1? M Poyhonen, E L Leisti, S Kytölä, and J Leisti J Med Genet 1997; 34: 184-187. doi:10.1136/jmg.34.3.184 [Abstract] [PDF] [Request Permissions]
	Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. M C Digilio, B Marino, A Giannotti, A Toscano, and B Dallapiccola J Med Genet 1997; 34: 188-190. doi:10.1136/jmg.34.3.188 [Abstract] [PDF] [Request Permissions]
	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. R H Flomen, P A Gorman, R Vatcheva, J Groet, I Barisic, I Ligutic, D Sheer, and D Nizetic J Med Genet 1997; 34: 191-195. doi:10.1136/jmg.34.3.191 [Abstract] [PDF] [Request Permissions]
	A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. R Tupler, G L Marseglia, M Stefanini, E Prosperi, L Chessa, T Nardo, A Marchi, and P Maraschio J Med Genet 1997; 34: 196-202. doi:10.1136/jmg.34.3.196 [Abstract] [PDF] [Request Permissions]
	Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. R Wallerstein, C E Anderson, B Hay, P Gupta, L Gibas, K Ansari, F S Cowchock, V Weinblatt, C Reid, A Levitas, and L Jackson J Med Genet 1997; 34: 203-206. doi:10.1136/jmg.34.3.203 [Abstract] [PDF] [Request Permissions]
	A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J A Crolla, J E Cawdery, C A Oley, I D Young, J Gray, J Fantes, and V van Heyningen J Med Genet 1997; 34: 207-212. doi:10.1136/jmg.34.3.207 [Abstract] [PDF] [Request Permissions]
	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. K Narahara, E Baker, S Ito, Y Yokoyama, S Yu, D Hewitt, G R Sutherland, M R Eccles, and R I Richards J Med Genet 1997; 34: 213-216. doi:10.1136/jmg.34.3.213 [Abstract] [PDF] [Request Permissions]
	Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies. C Mignon, F Parente, C Stavropoulou, P Collignon, A Moncla, C Turc-Carel, and M G Mattei J Med Genet 1997; 34: 217-222. doi:10.1136/jmg.34.3.217 [Abstract] [PDF] [Request Permissions]
	Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. A Bobba, A Iolascon, S Giannattasio, M Albrizio, A Sinisi, F Prisco, F Schettini, and E Marra J Med Genet 1997; 34: 223-228. doi:10.1136/jmg.34.3.223 [Abstract] [PDF] [Request Permissions]
	Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence. J S Rubinsztein, D C Rubinsztein, P J McKenna, S Goodburn, and A J Holland J Med Genet 1997; 34: 229-233. doi:10.1136/jmg.34.3.229 [Abstract] [PDF] [Request Permissions]
	Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats. D C Rubinsztein and J Leggo J Med Genet 1997; 34: 234-236. doi:10.1136/jmg.34.3.234 [Abstract] [PDF] [Request Permissions]
	Genetic counselling: the psychological impact of meeting patients' expectations. S Michie, T M Marteau, and M Bobrow J Med Genet 1997; 34: 237-241. doi:10.1136/jmg.34.3.237 [Abstract] [PDF] [Request Permissions]
	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). J Garcia-Heras, J A Martin, S F Witchel, and P Scacheri J Med Genet 1997; 34: 242-245. doi:10.1136/jmg.34.3.242 [Abstract] [PDF] [Request Permissions]
	Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child. J Dean, G Cohen, J Kemp, L Robson, V Tembe, J Hasselaar, B Webster, A Lammi, and A Smith J Med Genet 1997; 34: 246-249. doi:10.1136/jmg.34.3.246 [Abstract] [PDF] [Request Permissions]
	Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal. R Willemsen, F Los, S Mohkamsing, A van den Ouweland, W Deelen, H Galjaard, and B Oostra J Med Genet 1997; 34: 250-251. doi:10.1136/jmg.34.3.250 [Abstract] [PDF] [Request Permissions]
	Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. C P Chen, S L Shih, F F Liu, and S W Jan J Med Genet 1997; 34: 252-255. doi:10.1136/jmg.34.3.252 [Abstract] [PDF] [Request Permissions]
	Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. M Ruggieri, C Carbonara, G Magro, N Migone, S Grasso, A Tinè, L Pavone, and M R Gomez J Med Genet 1997; 34: 256-260. doi:10.1136/jmg.34.3.256 [Abstract] [PDF] [Request Permissions]
	Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy. J Slee and J Goldblatt J Med Genet 1997; 34: 261-263. doi:10.1136/jmg.34.3.261 [Abstract] [PDF] [Request Permissions]
	Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene. C Holzmann, A M Saecker, J T Epplen, and O Riess J Med Genet 1997; 34: 264. doi:10.1136/jmg.34.3.264 [PDF] [Request Permissions]