Research Article

	Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. M Votruba, A T Moore, and S S Bhattacharya J Med Genet 1998; 35: 793-800. doi:10.1136/jmg.35.10.793 [Abstract] [PDF] [Request Permissions]
	Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. H G Yntema, B C Hamel, A P Smits, T van Roosmalen, B van den Helm, H Kremer, H H Ropers, D F Smeets, and H van Bokhoven J Med Genet 1998; 35: 801-805. doi:10.1136/jmg.35.10.801 [Abstract] [PDF] [Request Permissions]
	The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. H E Cunliffe, L A McNoe, T A Ward, K Devriendt, H G Brunner, and M R Eccles J Med Genet 1998; 35: 806-812. doi:10.1136/jmg.35.10.806 [Abstract] [PDF] [Request Permissions]
	Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. V M Park and E K Pivnick J Med Genet 1998; 35: 813-820. doi:10.1136/jmg.35.10.813 [Abstract] [PDF] [Request Permissions]
	Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting. P Georgiades, C Chierakul, and A C Ferguson-Smith J Med Genet 1998; 35: 821-824. doi:10.1136/jmg.35.10.821 [Abstract] [PDF] [Request Permissions]
	A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. J A Price, J T Wright, K Kula, D W Bowden, and T C Hart J Med Genet 1998; 35: 825-828. doi:10.1136/jmg.35.10.825 [Abstract] [PDF] [Request Permissions]
	Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. N Matsumoto, D T Pilz, J A Fantes, K Kittikamron, and D H Ledbetter J Med Genet 1998; 35: 829-832. doi:10.1136/jmg.35.10.829 [Abstract] [PDF] [Request Permissions]
	A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. A T Sumner, A R Mitchell, and P M Ellis J Med Genet 1998; 35: 833-835. doi:10.1136/jmg.35.10.833 [Abstract] [PDF] [Request Permissions]
	Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation. S R Ghaffari, E Boyd, J M Connor, A M Jones, and J L Tolmie J Med Genet 1998; 35: 836-840. doi:10.1136/jmg.35.10.836 [Abstract] [PDF] [Request Permissions]
	Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. S Verhoef, C T Schrander-Stumpel, V D Vuzevski, A Tempelaars, L A Jansen, G A Malfeyt, T L Ceelen, D Lindhout, D J Halley, and A M van den Ouweland J Med Genet 1998; 35: 841-845. doi:10.1136/jmg.35.10.841 [Abstract] [PDF] [Request Permissions]
	A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. A J Richards, S Martin, A C Nicholls, J B Harrison, F M Pope, and N P Burrows J Med Genet 1998; 35: 846-848. doi:10.1136/jmg.35.10.846 [Abstract] [PDF] [Request Permissions]
	Fibroblast silver loading for the diagnosis of Menkes disease. F W Verheijen, C E Beerens, A C Havelaar, W J Kleijer, and G M Mancini J Med Genet 1998; 35: 849-851. doi:10.1136/jmg.35.10.849 [Abstract] [PDF] [Request Permissions]
	Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts. N Hoshi, M Fujita, M Mikuni, T Fujino, K Okuyama, Y Handa, H Yamada, T Sagawa, H Hareyama, Y Nakahori, K Fujieda, J A Kant, K Nagashima, and S Fujimoto J Med Genet 1998; 35: 852-856. doi:10.1136/jmg.35.10.852 [Abstract] [PDF] [Request Permissions]
	Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. A F Davies, K Imaizumi, G Mirza, R S Stephens, Y Kuroki, M Matsuno, and J Ragoussis J Med Genet 1998; 35: 857-861. doi:10.1136/jmg.35.10.857 [Abstract] [PDF] [Request Permissions]
	Discordant phenotypes and 45,X/46,X,idic(Y). T E Kelly, J B Franko, A Rogol, and W L Golden J Med Genet 1998; 35: 862-864. doi:10.1136/jmg.35.10.862 [Abstract] [PDF] [Request Permissions]
	Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. R G Hutcheon, A Mallik, and M Shaham J Med Genet 1998; 35: 865-867. doi:10.1136/jmg.35.10.865 [Abstract] [PDF] [Request Permissions]
	Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? E F Percin, S Percin, H Egilmez, I Sezgin, F Ozbas, and A N Akarsu J Med Genet 1998; 35: 868-874. doi:10.1136/jmg.35.10.868 [Abstract] [PDF] [Request Permissions]
	Triophthalmia and facial clefting: a case report. S M Tayel, M A Sabry, N A Kader, S Farah, S A Al-Awadi, and T I Farag J Med Genet 1998; 35: 875-877. doi:10.1136/jmg.35.10.875 [Abstract] [PDF] [Request Permissions]
	Molecular evidence that fragile X syndrome occurs in the South African black population. A Goldman, T Jenkins, and A Krause J Med Genet 1998; 35: 878. doi:10.1136/jmg.35.10.878 [PDF] [Request Permissions]
	High frequency of the haemochromatosis C282Y mutation in Hungary could argue against a Celtic origin of the mutation. A Tordai, H Andrikovics, L Kalmár, K Rajczy, M Pénzes, B Sarkadi, I Klein, and A Váradi J Med Genet 1998; 35: 878-879. doi:10.1136/jmg.35.10.878-a [PDF] [Request Permissions]
	Hypoplastic left heart in cerebrocostomandibular syndrome. E Kirk and L Ades J Med Genet 1998; 35: 879. doi:10.1136/jmg.35.10.879 [PDF] [Request Permissions]
	Another dystonia. M W Partington J Med Genet 1998; 35: 879. doi:10.1136/jmg.35.10.879-a [PDF] [Request Permissions]