Abstract

	Medical genetics: advances in brief: Recombination of 4p16 DNA markers in an unusual family with Huntington disease Judith Goodship J Med Genet 1992; 29: 757. doi:10.1136/jmg.29.10.757-c [PDF] [Request Permissions]

Abstracts

	Medical genetics: advances in brief Andrew Norman J Med Genet 1992; 29: 756. doi:10.1136/jmg.29.10.756 [PDF] [Request Permissions]
	Medical genetics: advances in brief: Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents N S Thakker J Med Genet 1992; 29: 756. doi:10.1136/jmg.29.10.756-a [PDF] [Request Permissions]
	Medical genetics: advances in brief: Linkage of type 2 diabetes to the glucokinase gene W Reardon J Med Genet 1992; 29: 756. doi:10.1136/jmg.29.10.756-b [PDF] [Request Permissions]
	Medical genetics: advances in brief Andrew Wilkie J Med Genet 1992; 29: 756. doi:10.1136/jmg.29.10.756-c [PDF] [Request Permissions]
	Medical genetics: advances in brief: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes Judith Goodship J Med Genet 1992; 29: 756. doi:10.1136/jmg.29.10.756-d [PDF] [Request Permissions]
	Medical genetics: advances in brief: Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero David Fitzpatrick J Med Genet 1992; 29: 756-757. doi:10.1136/jmg.29.10.756-e [PDF] [Request Permissions]
	Medical genetics: advances in brief: Presymptomatic testing for Huntington's disease in the United Kingdom Andrew Norman J Med Genet 1992; 29: 757. doi:10.1136/jmg.29.10.757 [PDF] [Request Permissions]
	Medical genetics: advances in brief: Of mice and men: genetic skin diseases of keratin N S Thakker J Med Genet 1992; 29: 757. doi:10.1136/jmg.29.10.757-a [PDF] [Request Permissions]
	Medical genetics: advances in brief: Amplification of a gene encoding a p53-associated protein in human sarcomas Andrew Wilkie J Med Genet 1992; 29: 757. doi:10.1136/jmg.29.10.757-b [PDF] [Request Permissions]
	Medical genetics: advances in brief: Value of routine ultrasound scanning at 19 weeks: a four year study of 8849 deliveries Andrew Norman J Med Genet 1992; 29: 757. doi:10.1136/jmg.29.10.757-d [PDF] [Request Permissions]

Book Reviews

	Huntington's Disease Rodney Harris J Med Genet 1992; 29: 759. doi:10.1136/jmg.29.10.759 [PDF] [Request Permissions]
	Annual Review of Genetics Andrew P Read J Med Genet 1992; 29: 759. doi:10.1136/jmg.29.10.759-a [PDF] [Request Permissions]
	The Human Genome N A Kalsheker J Med Genet 1992; 29: 759. doi:10.1136/jmg.29.10.759-b [PDF] [Request Permissions]
	The Seeds of Time Alan Emery J Med Genet 1992; 29: 759-760. doi:10.1136/jmg.29.10.759-c [PDF] [Request Permissions]
	Fetal and Perinatal Neurology Sarah Bundey J Med Genet 1992; 29: 760. doi:10.1136/jmg.29.10.760 [PDF] [Request Permissions]

Research Article

	The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. L A Brueton, L van Herwerden, K A Chotai, and R M Winter J Med Genet 1992; 29: 681-685. doi:10.1136/jmg.29.10.681 [Abstract] [PDF] [Request Permissions]
	Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. L M Kayes, V M Riccardi, W Burke, R L Bennett, and K Stephens J Med Genet 1992; 29: 686-690. doi:10.1136/jmg.29.10.686 [Abstract] [PDF] [Request Permissions]
	Screening and genetic counselling for relatives of patients with breast cancer in a family cancer clinic. R S Houlston, L Lemoine, E McCarter, S Harrington, K MacDermot, J Hinton, L Berger, and J Slack J Med Genet 1992; 29: 691-694. doi:10.1136/jmg.29.10.691 [Abstract] [PDF] [Request Permissions]
	Sex ratios of affected and transmitting members of multiple case families with neural tube defects. E C Mariman and B C Hamel J Med Genet 1992; 29: 695-698. doi:10.1136/jmg.29.10.695 [Abstract] [PDF] [Request Permissions]
	A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J A Crolla, N R Dennis, and P A Jacobs J Med Genet 1992; 29: 699-703. doi:10.1136/jmg.29.10.699 [Abstract] [PDF] [Request Permissions]
	Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. C A Brandt, J M Hertz, M B Petersen, F Vogel, H Noer, and M Mikkelsen J Med Genet 1992; 29: 704-708. doi:10.1136/jmg.29.10.704 [Abstract] [PDF] [Request Permissions]
	Extravillus dividing fetal cells at CVS: evidence of their erythroblastic origin. G Terzoli, R Cartolano, F Rossella, A Cantù-Rajnoldi, B Brambati, M Fraccaro, and G Simoni J Med Genet 1992; 29: 709-712. doi:10.1136/jmg.29.10.709 [Abstract] [PDF] [Request Permissions]
	The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). M Le Merrer, K Ben Othmane, V Stanescu, S Lyonnet, L Van Maldergem, G Royer, A Munnich, and P Maroteaux J Med Genet 1992; 29: 713-715. doi:10.1136/jmg.29.10.713 [Abstract] [PDF] [Request Permissions]
	Recognition of thalidomide defects. R W Smithells and C G Newman J Med Genet 1992; 29: 716-723. doi:10.1136/jmg.29.10.716 [PDF] [Request Permissions]
	Postgraduate teaching in clinical genetics in the United Kingdom. A W Johnston J Med Genet 1992; 29: 724-725. doi:10.1136/jmg.29.10.724 [PDF] [Request Permissions]
	Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. J Tarleton, S Wong, D Heitz, and C Schwartz J Med Genet 1992; 29: 726-729. doi:10.1136/jmg.29.10.726 [Abstract] [PDF] [Request Permissions]
	The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs. N M Smith, H M Chambers, M E Furness, and E A Haan J Med Genet 1992; 29: 730-732. doi:10.1136/jmg.29.10.730 [Abstract] [PDF] [Request Permissions]
	Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs. I D Young, P A McKeever, M V Squier, and J Grant J Med Genet 1992; 29: 733-735. doi:10.1136/jmg.29.10.733 [Abstract] [PDF] [Request Permissions]
	A new X linked syndrome with mental retardation and craniofacial dysmorphism? I Hyde-Forster, G McCarthy, and A C Berry J Med Genet 1992; 29: 736-738. doi:10.1136/jmg.29.10.736 [Abstract] [PDF] [Request Permissions]
	Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. C J Van Der Burgt, G F Merkx, A H Janssen, J C Mulder, R F Suijkerbuijk, and D F Smeets J Med Genet 1992; 29: 739-741. doi:10.1136/jmg.29.10.739 [Abstract] [PDF] [Request Permissions]
	A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. L R Willatt, B C Davison, D Goudie, J Alexander, H M Dyson, P E Jenks, and M E Ferguson-Smith J Med Genet 1992; 29: 742-744. doi:10.1136/jmg.29.10.742 [Abstract] [PDF] [Request Permissions]
	Trisomy 15 mosaicism in an IVF fetus. C P Bennett, T Davis, and M J Seller J Med Genet 1992; 29: 745-746. doi:10.1136/jmg.29.10.745 [Abstract] [PDF] [Request Permissions]
	De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome. L Telvi, J M Pinard, R Ion, P M Sinet, A Nicole, J Feingold, O Dulac, A Pompidou, and G Ponsot J Med Genet 1992; 29: 747-749. doi:10.1136/jmg.29.10.747 [Abstract] [PDF] [Request Permissions]
	Premature chromosome condensation in a child with trisomy 21. K Prabhakara, B Kar, and S K Murthy J Med Genet 1992; 29: 750-751. doi:10.1136/jmg.29.10.750 [PDF] [Request Permissions]
	Familial postaxial acrofacial dysostosis syndrome. A Giannotti, M C Digilio, Q Virgili, M G Obregon, A M Guadagni, T Ventura, and B Dallapiccola J Med Genet 1992; 29: 752. doi:10.1136/jmg.29.10.752 [PDF] [Request Permissions]
	Report of ENMC workshop on the limb-girdle muscular dystrophies. A Clarke J Med Genet 1992; 29: 753-755. doi:10.1136/jmg.29.10.753 [PDF] [Request Permissions]
	Patent ductus arteriosus in four generations of a family. J C Rogers, M L Begleiter, and D J Harris J Med Genet 1992; 29: 758. doi:10.1136/jmg.29.10.758 [PDF] [Request Permissions]
	Linkage disequilibrium between D16S94 and the locus for adult polycystic kidney disease (PKD1) R G Elles J Med Genet 1992; 29: 758. doi:10.1136/jmg.29.10.758-a [PDF] [Request Permissions]