Abstracts

	Abstracts of the Joint British Medical Genetics meeting organised by the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 September 1991 at the University of Bristol J Med Genet 1992; 29: 272-285. doi:10.1136/jmg.29.4.272 [PDF] [Request Permissions]
	Medical genetics: advances in brief: Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1 Andrew Wilkie J Med Genet 1992; 29: 286. doi:10.1136/jmg.29.4.286 [PDF] [Request Permissions]
	Medical genetics: advances in brief: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population Andrew Norman J Med Genet 1992; 29: 286. doi:10.1136/jmg.29.4.286-a [PDF] [Request Permissions]
	Medical genetics: advances in brief: Early bacteriologic, immunologic and clinical courses of young infants with cystic fibrosis identified by neonatal screening David Fitzpatrick J Med Genet 1992; 29: 286. doi:10.1136/jmg.29.4.286-b [PDF] [Request Permissions]
	Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel N S Thakker J Med Genet 1992; 29: 286. doi:10.1136/jmg.29.4.286-c [PDF] [Request Permissions]
	Medical genetics: advances in brief: Molecular analysis of X linked agammaglobulinemia with growth hormone deficiency David Fitzpatrick J Med Genet 1992; 29: 286. doi:10.1136/jmg.29.4.286-d [PDF] [Request Permissions]

Book Reviews

	Genatlas Peter S Harper J Med Genet 1992; 29: 288. doi:10.1136/jmg.29.4.288 [PDF] [Request Permissions]
	Chromosome Anomalies and Prenatal Development: An Atlas Dian Donnai J Med Genet 1992; 29: 288. doi:10.1136/jmg.29.4.288-a [PDF] [Request Permissions]

Research Article

	Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females. C Moutou, C Junien, I Henry, and C Bonaïti-Pellié J Med Genet 1992; 29: 217-220. doi:10.1136/jmg.29.4.217 [Abstract] [PDF] [Request Permissions]
	Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. D Viljoen and R Ramesar J Med Genet 1992; 29: 221-225. doi:10.1136/jmg.29.4.221 [Abstract] [PDF] [Request Permissions]
	Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. T Ogata, J R Hawkins, A Taylor, N Matsuo, J Hata, and P N Goodfellow J Med Genet 1992; 29: 226-230. doi:10.1136/jmg.29.4.226 [Abstract] [PDF] [Request Permissions]
	Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese. L Chen, X Pan, Y Shen, Z Chen, Y Zhang, and R Chen J Med Genet 1992; 29: 231-232. doi:10.1136/jmg.29.4.231 [Abstract] [PDF] [Request Permissions]
	Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, and A Aurias J Med Genet 1992; 29: 233-235. doi:10.1136/jmg.29.4.233 [Abstract] [PDF] [Request Permissions]
	Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13. R P Young, P A Sharp, J R Lynch, J A Faux, G M Lathrop, W O Cookson, and J M Hopkin J Med Genet 1992; 29: 236-238. doi:10.1136/jmg.29.4.236 [Abstract] [PDF] [Request Permissions]
	Age at onset and life table risks in genetic counselling for Huntington's disease. P S Harper and R G Newcombe J Med Genet 1992; 29: 239-242. doi:10.1136/jmg.29.4.239 [Abstract] [PDF] [Request Permissions]
	Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1). E Coto, S Aguado, J Alvarez, M J Menéndez Díaz, and C López-Larrea J Med Genet 1992; 29: 243-246. doi:10.1136/jmg.29.4.243 [Abstract] [PDF] [Request Permissions]
	Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene. S E Pound, A D Carothers, P M Pignatelli, A M Macnicol, M L Watson, and A F Wright J Med Genet 1992; 29: 247-248. doi:10.1136/jmg.29.4.247 [PDF] [Request Permissions]
	A strategy for the rapid isolation of new PCR based DNA polymorphisms. P R Hoban, M F Santibanez-Koref, and J Heighway J Med Genet 1992; 29: 249-250. doi:10.1136/jmg.29.4.249 [PDF] [Request Permissions]
	Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. I D Young, J M Zuccollo, E L Maltby, and N J Broderick J Med Genet 1992; 29: 251-252. doi:10.1136/jmg.29.4.251 [Abstract] [PDF] [Request Permissions]
	A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. R Tupler, P Maraschio, A Gerardo, R Mainieri, G Lanzi, and L Tiepolo J Med Genet 1992; 29: 253-255. doi:10.1136/jmg.29.4.253 [Abstract] [PDF] [Request Permissions]
	Evidence that Rieger syndrome maps to 4q25 or 4q27. C Vaux, L Sheffield, C G Keith, and L Voullaire J Med Genet 1992; 29: 256-258. doi:10.1136/jmg.29.4.256 [Abstract] [PDF] [Request Permissions]
	Interstitial deletion of the distal long arm of chromosome 4. P Sarda, G Lefort, J P Fryns, C Humeau, and D Rieu J Med Genet 1992; 29: 259-261. doi:10.1136/jmg.29.4.259 [Abstract] [PDF] [Request Permissions]
	The orocraniodigital syndrome of Juberg and Hayward. A Verloes, M Le Merrer, J C Davin, P Wittamer, C Abrassart, G Bricteux, and M L Briard J Med Genet 1992; 29: 262-265. doi:10.1136/jmg.29.4.262 [Abstract] [PDF] [Request Permissions]
	The Baller-Gerold syndrome. L Van Maldergem, A Verloes, L Lejeune, and Y Gillerot J Med Genet 1992; 29: 266-268. doi:10.1136/jmg.29.4.266 [Abstract] [PDF] [Request Permissions]
	Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome? K Zerres, M Rietschel, E Rietschel, F Majewski, and P Meinecke J Med Genet 1992; 29: 269-271. doi:10.1136/jmg.29.4.269 [Abstract] [PDF] [Request Permissions]
	Hypoglossia-hypodactyly syndrome with hydrocephalus. A H Lipson and D D Weaver J Med Genet 1992; 29: 287. doi:10.1136/jmg.29.4.287 [PDF] [Request Permissions]
	Fragile X syndrome: as common as first thought? R D Smart J Med Genet 1992; 29: 287. doi:10.1136/jmg.29.4.287-a [PDF] [Request Permissions]