Review articles

	Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements Dieter Kotzot J Med Genet 2001; 38: 497-507. doi:10.1136/jmg.38.8.497 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality Bernhard U Bender, Charis Eng, Manfred Olschewski, Dietmar P Berger, Jörg Laubenberger, Carsten Altehöfer, Günter Kirste, Miro Orszagh, Vera van Velthoven, Henning Miosczka, Dieter Schmidt, and Hartmut P H Neumann J Med Genet 2001; 38: 508-514. doi:10.1136/jmg.38.8.508 [Abstract] [Full text] [PDF] [Request Permissions]
	A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment L Van Laer, P Coucke, R F Mueller, G Caethoven, K Flothmann, S D Prasad, G P Chamberlin, M Houseman, G R Taylor, C M Van de Heyning, E Fransen, J Rowland, R A Cucci, R J H Smith, and G Van Camp J Med Genet 2001; 38: 515-518. doi:10.1136/jmg.38.8.515 [Abstract] [Full text] [PDF] [Request Permissions]
	Predictive genetic testing in children and adults: a study of emotional impact S Michie, M Bobrow, and T M Marteau J Med Genet 2001; 38: 519-526. doi:10.1136/jmg.38.8.519 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations Margreet G E M Ausems, Klara ten Berg, Lodewijk A Sandkuijl, Marian A Kroos, Alfons F J Bardoel, Katerina N Roumelioti, Arnold J J Reuser, Richard Sinke, and Cisca Wijmenga J Med Genet 2001; 38: 527-529. doi:10.1136/jmg.38.8.527 [Extract] [Full text] [PDF] [Request Permissions]
	Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families Sarah Rickard, David P Kelsell, Tony Sirimana, Kaukab Rajput, Breege MacArdle, and Maria Bitner-Glindzicz J Med Genet 2001; 38: 530-533. doi:10.1136/jmg.38.8.530 [Extract] [Full text] [PDF] [Request Permissions]
	A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome? Judy Henwood, Chris Pickard, Jack P Leek, Christopher P Bennett, Yanick J Crow, John D R Thompson, Mushtaq Ahmed, Kevin G Watterson, Jonathan M Parsons, Emma Roberts, and Nicholas J Lench J Med Genet 2001; 38: 533-536. doi:10.1136/jmg.38.8.533 [Extract] [Full text] [PDF] [Request Permissions]
	High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects Anelia Horvath, Alexey Savov, Stephen Kirov, Elina Karshelova, Iva Paskaleva, Assen Goudev, and Varban Ganev J Med Genet 2001; 38: 536-540. doi:10.1136/jmg.38.8.536 [Extract] [Full text] [PDF] [Request Permissions]
	A community based study on intentions regarding predictive testing for hereditary breast cancer M Welkenhuysen, G Evers-Kiebooms, M Decruyenaere, E Claes, and L Denayer J Med Genet 2001; 38: 540-547. doi:10.1136/jmg.38.8.540 [Extract] [Full text] [PDF] [Request Permissions]
	Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition Donna M Martin and Jerome L Gorski J Med Genet 2001; 38: 547-551. doi:10.1136/jmg.38.8.547 [Extract] [Full text] [PDF] [Request Permissions]
	Recessively inherited lower incisor hypodontia Sinikka Pirinen, Anu Kentala, Pekka Nieminen, Teppo Varilo, Irma Thesleff, and Sirpa Arte J Med Genet 2001; 38: 551-556. doi:10.1136/jmg.38.8.551 [Extract] [Full text] [PDF] [Request Permissions]
	Congenital diaphragmatic hernia and interstitial deletion of chromosome 3 P Brennan, G D Croaker, and M Heath J Med Genet 2001; 38: 556-558. doi:10.1136/jmg.38.8.556 [Extract] [Full text] [PDF] [Request Permissions]
	A supernumerary marker chromosome with a neocentromere derived from 5p14pter Barbara Fritz, Ilona Dietze, Annelise Wandall, Mücehver Aslan, Angela Schmidt, Evelyn Kattner, Robin Schwerdtfeger, and Ursula Friedrich J Med Genet 2001; 38: 559-565. doi:10.1136/jmg.38.8.559 [Extract] [Full text] [PDF] [Request Permissions]
	A case of Roberts syndrome described in 1737 A W Bates J Med Genet 2001; 38: 565-567. doi:10.1136/jmg.38.8.565 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms Mark J Houseman, Andrew P Jackson, Lihadh I Al-Gazali, Romina A Badin, Emma Roberts, and Robert F Mueller J Med Genet 2001; 38: e25. doi:10.1136/jmg.38.8.e25 [Extract] [Full text] [PDF] [Request Permissions]
	MET mutation and familial gastric cancer J D Chen, S Kearns, T Porter, F M Richards, E R Maher, and B T Teh J Med Genet 2001; 38: e26. doi:10.1136/jmg.38.8.e26 [Extract] [Full text] [PDF] [Request Permissions]
	Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome Delphine Héron, Christian Bonnard, Claude Moraine, and Annick Toutain J Med Genet 2001; 38: e27. doi:10.1136/jmg.38.8.e27 [Extract] [Full text] [PDF] [Request Permissions]