Review articles

	Risk assessment and management of high risk familial breast cancer D G R Evans and F Lalloo J Med Genet 2002; 39: 865-871. doi:10.1136/jmg.39.12.865 [Abstract] [Full text] [PDF] [Request Permissions]
	Transient neonatal diabetes, a disorder of imprinting I K Temple and J P H Shield J Med Genet 2002; 39: 872-875. doi:10.1136/jmg.39.12.872 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Thrombocytopenia-absent radius syndrome: a clinical genetic study K L Greenhalgh, R T Howell, A Bottani, P J Ancliff, H G Brunner, C C Verschuuren-Bemelmans, E Vernon, K W Brown, and R A Newbury-Ecob J Med Genet 2002; 39: 876-881. doi:10.1136/jmg.39.12.876 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy T C Hart, M C Gorry, P S Hart, A S Woodard, Z Shihabi, J Sandhu, B Shirts, L Xu, H Zhu, M M Barmada, and A J Bleyer J Med Genet 2002; 39: 882-892. doi:10.1136/jmg.39.12.882 [Abstract] [Full text] [PDF] [Request Permissions]
	Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype V S Vervoort, D Viljoen, R Smart, G Suthers, B R DuPont, A Abbott, and C E Schwartz J Med Genet 2002; 39: 893-899. doi:10.1136/jmg.39.12.893 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination P L Roddam, S Rollinson, M O’Driscoll, P A Jeggo, A Jack, and G J Morgan J Med Genet 2002; 39: 900-905. doi:10.1136/jmg.39.12.900 [Abstract] [Full text] [PDF] [Request Permissions]
	Clinical and genetic studies of Birt-Hogg-Dubé syndrome S K Khoo, S Giraud, K Kahnoski, J Chen, O Motorna, R Nickolov, O Binet, D Lambert, J Friedel, R Lévy, S Ferlicot, P Wolkenstein, P Hammel, U Bergerheim, M-A Hedblad, M Bradley, B T Teh, M Nordenskjöld, and S Richard J Med Genet 2002; 39: 906-912. doi:10.1136/jmg.39.12.906 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family S Chen, M K Chung, D Martin, R Rozich, P J Tchou, and Q Wang J Med Genet 2002; 39: 913-915. doi:10.1136/jmg.39.12.913 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Evolution and expression of FOXL2 J Cocquet, E Pailhoux, F Jaubert, N Servel, X Xia, M Pannetier, E De Baere, L Messiaen, C Cotinot, M Fellous, and R A Veitia J Med Genet 2002; 39: 916-921. doi:10.1136/jmg.39.12.916 [Extract] [Full text] [PDF] [Request Permissions]
	Longevity in Schimke immuno-osseous dysplasia S Lou, P Lamfers, N McGuire, and C F Boerkoel J Med Genet 2002; 39: 922-925. doi:10.1136/jmg.39.12.922 [Extract] [Full text] [PDF] [Request Permissions]
	Relationship between clinical and genetic diagnosis of Prader-Willi syndrome J Whittington, A Holland, T Webb, J Butler, D Clarke, and H Boer J Med Genet 2002; 39: 926-932. doi:10.1136/jmg.39.12.926 [Extract] [Full text] [PDF] [Request Permissions]
	Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature L Armstrong and J T R Clarke J Med Genet 2002; 39: 933-934. doi:10.1136/jmg.39.12.933 [Extract] [Full text] [PDF] [Request Permissions]
	Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia V Juvonen, V Kairisto, M Hietala, and M-L Savontaus J Med Genet 2002; 39: 935-936. doi:10.1136/jmg.39.12.935 [Extract] [Full text] [PDF] [Request Permissions]
	Germline mutation of the tumour suppressor PTEN in Proteus syndrome J M Smith, E P E Kirk, G Theodosopoulos, G M Marshall, J Walker, M Rogers, M Field, J J Brereton, and D J Marsh J Med Genet 2002; 39: 937-940. doi:10.1136/jmg.39.12.937 [Extract] [Full text] [PDF] [Request Permissions]
	Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome D G R Evans, J M Birch, M Thorneycroft, G McGown, F Lalloo, and J M Varley J Med Genet 2002; 39: 941-944. doi:10.1136/jmg.39.12.941 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Unlinked genes influence severity of FAP within families J Med Genet 2002; 39: 905. doi:10.1136/jmg.39.12.905 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype I Witters, P Moerman, A Van Assche, and J-P Fryns J Med Genet 2002; 39: e75. doi:10.1136/jmg.39.12.e75 [Extract] [Full text] [PDF] [Request Permissions]
	Behavioural phenotype of Bardet-Biedl syndrome S Barnett, S Reilly, L Carr, I Ojo, P L Beales, and T Charman J Med Genet 2002; 39: e76. doi:10.1136/jmg.39.12.e76 [Extract] [Full text] [PDF] [Request Permissions]
	Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, and M Zatz J Med Genet 2002; 39: e77. doi:10.1136/jmg.39.12.e77 [Extract] [Full text] [PDF] [Request Permissions]
	PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, L Groussin, J Bertherat, and C A Stratakis J Med Genet 2002; 39: e78. doi:10.1136/jmg.39.12.e78 [Extract] [Full text] [PDF] [Request Permissions]
	Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation N P H Chan, M H L Ng, S H Cheng, V Lee, K S Tsang, T T Lau, and C K Li J Med Genet 2002; 39: e79. doi:10.1136/jmg.39.12.e79 [Extract] [Full text] [PDF] [Request Permissions]
	A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex C R Quilter, N Nathwani, G S Conway, R Stanhope, D Ralph, G Bahadur, P Serhal, K Taylor, and J D A Delhanty J Med Genet 2002; 39: e80. doi:10.1136/jmg.39.12.e80 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies N Vandenberghe, M Upadhyaya, A Gatignol, L Boutrand, M Boucherat, G Chazot, A Vandenberghe, and P Latour J Med Genet 2002; 39: e81. doi:10.1136/jmg.39.12.e81 [Extract] [Full text] [PDF] [Request Permissions]
	Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNASer(UCN) gene F J del Castillo, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, and I del Castillo J Med Genet 2002; 39: e82. doi:10.1136/jmg.39.12.e82 [Extract] [Full text] [PDF] [Request Permissions]
	Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT) R Shibata, A Hashiguchi, J Sakamoto, T Yamada, A Umezawa, and J Hata J Med Genet 2002; 39: e83. doi:10.1136/jmg.39.12.e83 [Extract] [Full text] [PDF] [Request Permissions]

Online medical genetics in practice

	Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics C Wright, L Kerzin-Storrar, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, and D Craufurd J Med Genet 2002; 39: e84. doi:10.1136/jmg.39.12.e84 [Abstract] [Full text] [PDF] [Request Permissions]
	Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients L Kerzin-Storrar, C Wright, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, and D Craufurd J Med Genet 2002; 39: e85. doi:10.1136/jmg.39.12.e85 [Abstract] [Full text] [PDF] [Request Permissions]

Electronic pages

	Author index J Med Genet 2002; 39: e86. doi:10.1136/jmg.39.12.e86 [PDF] [Request Permissions]
	Subject index J Med Genet 2002; 39: e87. doi:10.1136/jmg.39.12.e87 [PDF] [Request Permissions]