Abstracts

	Medical genetics: advances in brief: Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis Willie Reardon J Med Genet 1993; 30: 349. doi:10.1136/jmg.30.4.349 [PDF] [Request Permissions]
	Medical genetics: advances in brief: Identification of a second pseudo-autosomal region near the Xq and Yq telomeres John C K Barber J Med Genet 1993; 30: 349. doi:10.1136/jmg.30.4.349-a [PDF] [Request Permissions]
	Medical genetics: advances in brief Andrew Wilkie J Med Genet 1993; 30: 349. doi:10.1136/jmg.30.4.349-b [PDF] [Request Permissions]
	Medical genetics: advances in brief: Prevention of the first occurrence of neural-tube defects by periconceptual vitamin supplementation Andrew Norman J Med Genet 1993; 30: 349. doi:10.1136/jmg.30.4.349-c [PDF] [Request Permissions]
	Medical genetics: advances in brief: A mammalian cell cycle checkpoint utilizing p53 and GADD45 is defective in ataxia-telangiectasia N S Thakker J Med Genet 1993; 30: 349. doi:10.1136/jmg.30.4.349-d [PDF] [Request Permissions]

Research Article

	Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. J Hästbacka, R Salonen, P Laurila, A de la Chapelle, and I Kaitila J Med Genet 1993; 30: 265-268. doi:10.1136/jmg.30.4.265 [Abstract] [PDF] [Request Permissions]
	Possible X linked congenital mitochondrial cardiomyopathy in three families. K H Orstavik, F Skjörten, M Hellebostad, P Hågå, and A Langslet J Med Genet 1993; 30: 269-272. doi:10.1136/jmg.30.4.269 [Abstract] [PDF] [Request Permissions]
	Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia. S Humphries, L King-Underwood, V Gudnason, M Seed, S Delattre, V Clavey, and J C Fruchart J Med Genet 1993; 30: 273-279. doi:10.1136/jmg.30.4.273 [Abstract] [PDF] [Request Permissions]
	Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. A J Walley, M L Barth, I Ellis, A H Fensom, and A Harris J Med Genet 1993; 30: 280-283. doi:10.1136/jmg.30.4.280 [Abstract] [PDF] [Request Permissions]
	Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. S Kleiman, L Vanagaite, J Bernstein, G Schwartz, N Brand, A Elitzur, S L Woo, and Y Shiloh J Med Genet 1993; 30: 284-288. doi:10.1136/jmg.30.4.284 [Abstract] [PDF] [Request Permissions]
	Onset symptoms in 510 patients with Huntington's disease. L Di Maio, F Squitieri, G Napolitano, G Campanella, J A Trofatter, and P M Conneally J Med Genet 1993; 30: 289-292. doi:10.1136/jmg.30.4.289 [Abstract] [PDF] [Request Permissions]
	Suicide risk in Huntington's disease. L Di Maio, F Squitieri, G Napolitano, G Campanella, J A Trofatter, and P M Conneally J Med Genet 1993; 30: 293-295. doi:10.1136/jmg.30.4.293 [Abstract] [PDF] [Request Permissions]
	Polydactyly: a study of a five generation Indian family. U Radhakrishna, A S Multani, J V Solanki, V C Shah, and N J Chinoy J Med Genet 1993; 30: 296-299. doi:10.1136/jmg.30.4.296 [Abstract] [PDF] [Request Permissions]
	Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene. C Oudet, C Weber, J Kaplan, B Segues, M F Croquette, E O Roman, and A Hanauer J Med Genet 1993; 30: 300-303. doi:10.1136/jmg.30.4.300 [Abstract] [PDF] [Request Permissions]
	An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content. M Witt, K Michalczak, A Latos-Bielenska, J Jaruzelska, I Kuczora, and M Lopez J Med Genet 1993; 30: 304-307. doi:10.1136/jmg.30.4.304 [Abstract] [PDF] [Request Permissions]
	The dopamine D3 receptor gene: no association with bipolar affective disorder. S Shaikh, D Ball, N Craddock, D Castle, N Hunt, R Mant, M Owen, D Collier, and M Gill J Med Genet 1993; 30: 308-309. doi:10.1136/jmg.30.4.308 [Abstract] [PDF] [Request Permissions]
	Otopalatodigital syndrome type II. S E Holder and R M Winter J Med Genet 1993; 30: 310-313. doi:10.1136/jmg.30.4.310 [PDF] [Request Permissions]
	A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. N Tommerup, Z Tümer, T Tønnesen, and N Horn J Med Genet 1993; 30: 314-315. doi:10.1136/jmg.30.4.314 [PDF] [Request Permissions]
	Prevalence of cystic fibrosis mutations in the Grampian region of Scotland. Z H Miedzybrodzka, J C Dean, G Russell, J A Friend, K F Kelly, and N E Haites J Med Genet 1993; 30: 316-317. doi:10.1136/jmg.30.4.316 [Abstract] [PDF] [Request Permissions]
	Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis. A King, H Houlden, J Hardy, R Lane, A Chancellor, and J de Belleroche J Med Genet 1993; 30: 318. doi:10.1136/jmg.30.4.318 [Abstract] [PDF] [Request Permissions]
	Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients. J P Fryns, P Thiry, J Geutjens, E Smeets, L Vinken, and H Van den Berghe J Med Genet 1993; 30: 319-321. doi:10.1136/jmg.30.4.319 [Abstract] [PDF] [Request Permissions]
	Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome? J P Fryns and P Moerman J Med Genet 1993; 30: 322-324. doi:10.1136/jmg.30.4.322 [Abstract] [PDF] [Request Permissions]
	Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome. W Reardon, N Lewis, and H E Hughes J Med Genet 1993; 30: 325-327. doi:10.1136/jmg.30.4.325 [Abstract] [PDF] [Request Permissions]
	Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations. S Gerboni, G Sabatino, R Mingarelli, and B Dallapiccola J Med Genet 1993; 30: 328-329. doi:10.1136/jmg.30.4.328 [Abstract] [PDF] [Request Permissions]
	Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features. U Trautmann, R A Pfeiffer, U Seufert-Satomi, and H U Tietze J Med Genet 1993; 30: 330-331. doi:10.1136/jmg.30.4.330 [Abstract] [PDF] [Request Permissions]
	Abstracts of the British Medical Genetics Conference. Nottingham, 23-25 September 1992. J Med Genet 1993; 30: 332-348. doi:10.1136/jmg.30.4.332 [PDF] [Request Permissions]

Spring Book Reviews

	Genetics Richard Trembath J Med Genet 1993; 30: 350. doi:10.1136/jmg.30.4.350 [PDF] [Request Permissions]
	Prader Willi Syndrome and Other Chromosome 15q Deletion Disorders John Tolmie J Med Genet 1993; 30: 350. doi:10.1136/jmg.30.4.350-a [PDF] [Request Permissions]
	The Code of Codes. Scientific and Social Issues in the Human Genome Project Alan Emery J Med Genet 1993; 30: 350. doi:10.1136/jmg.30.4.350-b [PDF] [Request Permissions]
	The Atlas of Mouse Development R M Winter J Med Genet 1993; 30: 350-351. doi:10.1136/jmg.30.4.350-c [PDF] [Request Permissions]
	Neurofibromatosis: Phenotype, Natural History and Pathogenesis Susan M Huson J Med Genet 1993; 30: 351. doi:10.1136/jmg.30.4.351 [PDF] [Request Permissions]
	Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment J M Connor J Med Genet 1993; 30: 351. doi:10.1136/jmg.30.4.351-a [PDF] [Request Permissions]
	Micromanipulation of Human Gametes and Embryos Marilyn Monk J Med Genet 1993; 30: 351-352. doi:10.1136/jmg.30.4.351-b [PDF] [Request Permissions]
	Genetic Diversity Among Jews: Diseases and Markers at the DNA Level Alan Emery J Med Genet 1993; 30: 352. doi:10.1136/jmg.30.4.352 [PDF] [Request Permissions]
	Mendelian Inheritance in Man Peter S Harper J Med Genet 1993; 30: 352. doi:10.1136/jmg.30.4.352-a [PDF] [Request Permissions]