Book Review

	The Science behind Jeans for Genes Day: Teaching Packs for Primary (Key Stage 2) and Secondary (Key Stage 4) Schools Bernadette Modell J Med Genet 1998; 35: 1056. doi:10.1136/jmg.35.12.1056 [PDF] [Request Permissions]

Research Article

	Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. J B Ali, T Sepp, S Ward, A J Green, and J R Yates J Med Genet 1998; 35: 969-972. doi:10.1136/jmg.35.12.969 [Abstract] [PDF] [Request Permissions]
	Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. C L Wu, N Thakker, W Neary, G Black, R Lye, R T Ramsden, A P Read, and D G Evans J Med Genet 1998; 35: 973-977. doi:10.1136/jmg.35.12.973 [Abstract] [PDF] [Request Permissions]
	Genetic implications of double primary cancers of the colorectum and endometrium. T Pal, T Flanders, M Mitchell-Lehman, A MacMillan, J S Brunet, S A Narod, and W D Foulkes J Med Genet 1998; 35: 978-984. doi:10.1136/jmg.35.12.978 [Abstract] [PDF] [Request Permissions]
	Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). G C Black, R Perveen, E Hatchwell, A Reck, and J Clayton-Smith J Med Genet 1998; 35: 985-988. doi:10.1136/jmg.35.12.985 [Abstract] [PDF] [Request Permissions]
	Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. D Stoilova, A Child, G Brice, T Desai, M Barsoum-Homsy, N Ozdemir, L Chevrette, M F Adam, H J Garchon, R Pitts Crick, and M Sarfarazi J Med Genet 1998; 35: 989-992. doi:10.1136/jmg.35.12.989 [Abstract] [PDF] [Request Permissions]
	1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. S W Knight, T J Vulliamy, N S Heiss, G Matthijs, K Devriendt, J M Connor, M D'Urso, A Poustka, P J Mason, and I Dokal J Med Genet 1998; 35: 993-996. doi:10.1136/jmg.35.12.993 [Abstract] [PDF] [Request Permissions]
	Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. T Webb, A Clarke, F Hanefeld, J L Pereira, L Rosenbloom, and C G Woods J Med Genet 1998; 35: 997-1003. doi:10.1136/jmg.35.12.997 [Abstract] [PDF] [Request Permissions]
	Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. L J Sheffield, A H Osborn, W M Hutchison, D O Sillence, S M Forrest, S J White, and H H Dahl J Med Genet 1998; 35: 1004-1008. doi:10.1136/jmg.35.12.1004 [Abstract] [PDF] [Request Permissions]
	The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. R de Franchis, A Buoninconti, C Mandato, A Pepe, M P Sperandeo, R Del Gado, V Capra, E Salvaggio, G Andria, and P Mastroiacovo J Med Genet 1998; 35: 1009-1013. doi:10.1136/jmg.35.12.1009 [Abstract] [PDF] [Request Permissions]
	Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease. A U López-Gutiérrez, L Riba, M L Ordoñez-Sánchez, S Ramírez-Jiménez, M Cerrillo-Hinojosa, and M T Tusié-Luna J Med Genet 1998; 35: 1014-1019. doi:10.1136/jmg.35.12.1014 [Abstract] [PDF] [Request Permissions]
	Knowledge, views, and experience of 25 women with myotonic dystrophy. C L Faulkner and H M Kingston J Med Genet 1998; 35: 1020-1025. doi:10.1136/jmg.35.12.1020 [Abstract] [PDF] [Request Permissions]
	A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. J P Johnson, R Nelson, and C E Schwartz J Med Genet 1998; 35: 1026-1030. doi:10.1136/jmg.35.12.1026 [Abstract] [PDF] [Request Permissions]
	Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. B Pirola, L Bortotto, S Giglio, E Piovan, A Janes, R Guerrini, and O Zuffardi J Med Genet 1998; 35: 1031-1033. doi:10.1136/jmg.35.12.1031 [Abstract] [PDF] [Request Permissions]
	The butyrylcholinesterase K variant and susceptibility to Alzheimer's disease. P G Kehoe, H Williams, P Holmans, G Wilcock, N J Cairns, J Neal, and M J Owen J Med Genet 1998; 35: 1034-1035. doi:10.1136/jmg.35.12.1034 [Abstract] [PDF] [Request Permissions]
	Costello syndrome: two cases with embryonal rhabdomyosarcoma. B Kerr, O B Eden, R Dandamudi, N Shannon, O Quarrell, A Emmerson, E Ladusans, M Gerrard, and D Donnai J Med Genet 1998; 35: 1036-1039. doi:10.1136/jmg.35.12.1036 [Abstract] [PDF] [Request Permissions]
	Familial occurrence of congenital incomplete prepyloric mucosal diaphragm. D B Gahukamble J Med Genet 1998; 35: 1040-1042. doi:10.1136/jmg.35.12.1040 [Abstract] [PDF] [Request Permissions]
	Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family. K Kabbaj, L Baala, H Chhoul, and A Sefiani J Med Genet 1998; 35: 1043-1044. doi:10.1136/jmg.35.12.1043 [Abstract] [PDF] [Request Permissions]
	Segregation distortion in myotonic dystrophy. A C Magee and A E Hughes J Med Genet 1998; 35: 1045-1046. doi:10.1136/jmg.35.12.1045 [Abstract] [PDF] [Request Permissions]
	Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1. D Melis, L Perone, M P Sperandeo, M S Sabbatino, M R Tuzzi, A Romano, G Parenti, and G Andria J Med Genet 1998; 35: 1047-1049. doi:10.1136/jmg.35.12.1047 [Abstract] [PDF] [Request Permissions]
	De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. C P Chen, S R Chern, C C Lee, W L Chen, M H Chen, and K M Chang J Med Genet 1998; 35: 1050-1053. doi:10.1136/jmg.35.12.1050 [Abstract] [PDF] [Request Permissions]
	Kenny-Caffey syndrome without the CATCH 22 deletion. T Yorifuji, J Muroi, and A Uematsu J Med Genet 1998; 35: 1054. doi:10.1136/jmg.35.12.1054 [PDF] [Request Permissions]
	Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Goodship J Med Genet 1998; 35: 1054. doi:10.1136/jmg.35.12.1054-a [PDF] [Request Permissions]
	Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Kirk J Med Genet 1998; 35: 1054. doi:10.1136/jmg.35.12.1054-b [PDF] [Request Permissions]
	Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. M A Sabry, M Zaki, and A Shaltout J Med Genet 1998; 35: 1054-1055. doi:10.1136/jmg.35.12.1054-c [PDF] [Request Permissions]
	Tricuspid atresia in sibs. A E Lin and L Rosti J Med Genet 1998; 35: 1055-1056. doi:10.1136/jmg.35.12.1055 [PDF] [Request Permissions]