Review articles

	Clinical mitochondrial genetics Patrick F Chinnery, Neil Howell, Richard M Andrews, and Douglass M Turnbull J Med Genet 1999; 36: 425-436. doi:10.1136/jmg.36.6.425 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey P L Beales, N Elcioglu, A S Woolf, D Parker, and F A Flinter J Med Genet 1999; 36: 437-446. doi:10.1136/jmg.36.6.437 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus Jean-Michet Rozet, Sylvie Gerber, Imad Ghazi, Isabelle Perrault, Dominique Ducroq, Eric Souied, Annick Cabot, Jean-Louis Dufier, Arnold Munnich, and Josseline Kaplan J Med Genet 1999; 36: 447-451. doi:10.1136/jmg.36.6.447 [Abstract] [Full text] [PDF] [Request Permissions]
	Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome Kamila Kusz, Maciej Kotecki, Alina Wojda, Maria Szarras-Czapnik, Anna Latos-Bielenska, Alina Warenik-Szymankiewicz, Anna Ruszczynska-Wolska, and Jadwiga Jaruzelska J Med Genet 1999; 36: 452-456. doi:10.1136/jmg.36.6.452 [Abstract] [Full text] [PDF] [Request Permissions]
	An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands M A Preece, S N Abu-Amero, Z Ali, K K Abu-Amero, E L Wakeling, P Stanier, and G E Moore J Med Genet 1999; 36: 457-460. doi:10.1136/jmg.36.6.457 [Abstract] [Full text] [PDF] [Request Permissions]
	Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes L I Al-Gazali, L Sztriha, A Dawodu, E Varady, M Bakir, A Khdir, and J Johansen J Med Genet 1999; 36: 461-466. doi:10.1136/jmg.36.6.461 [Abstract] [Full text] [PDF] [Request Permissions]
	Screening for the fragile X syndrome among the mentally retarded: a clinical study Bert B A de Vries, Serieta Mohkamsing, Ans M W van den Ouweland, Esther Mol, Kirsten Gelsema, Monique van Rijn, Aad Tibben, Dicky J J Halley, Hugo J Duivenvoorden, Ben A Oostra, and Martinus F Niermeijer J Med Genet 1999; 36: 467-470. doi:10.1136/jmg.36.6.467 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants Y V Voznyi, J L M Keulemans, G M S Mancini, C E Catsman-Berrevoets, E Young, B Winchester, W J Kleijer, and O P van Diggelen J Med Genet 1999; 36: 471-474. doi:10.1136/jmg.36.6.471 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome P J Coucke, P Van Hauwe, L A Everett, O Demirhan, Y Kabakkaya, N L Dietrich, R J H Smith, E Coyle, W Reardon, R Trembath, P J Willems, E D Green, and G Van Camp J Med Genet 1999; 36: 475-477. doi:10.1136/jmg.36.6.475 [Abstract] [Full text] [PDF] [Request Permissions]
	Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes A Botta, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, L R Osborne, M C Digilio, A Giannotti, and B Dallapiccola J Med Genet 1999; 36: 478-480. doi:10.1136/jmg.36.6.478 [Abstract] [Full text] [PDF] [Request Permissions]
	Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? H C J P Janssen, C Schaap, N Vandevijver, P Moerman, C E M de Die-Smulders, and J-P Fryns J Med Genet 1999; 36: 481-484. doi:10.1136/jmg.36.6.481 [Abstract] [Full text] [PDF] [Request Permissions]
	A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) Alice S Brooks, Martijn H Breuning, Jan Osinga, Jasper J vd Smagt, Corine E Catsman, Charles H C M Buys, Carel Meijers, and Robert M W Hofstra J Med Genet 1999; 36: 485-489. doi:10.1136/jmg.36.6.485 [Abstract] [Full text] [PDF] [Request Permissions]
	CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia Anna Ruiz, Susana Puig, Josep Malvehy, Conxi Lázaro, Michael Lynch, Anna M Gimenez-Arnau, Lluis Puig, Julian Sánchez-Conejo, Xavier Estivill, and Teresa Castel J Med Genet 1999; 36: 490-493. doi:10.1136/jmg.36.6.490 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Simultaneous decrease of telomere length and telomerase activity with ageing of human amniotic fluid cells ALEJANDRO MOSQUERA, JOSÉ LUIS FERNÁNDEZ, ASUNCIÓN CAMPOS, VICENTE J GOYANES, JOSÉ RAMIRO-DÍAZ, and JAIME GOSÁLVEZ J Med Genet 1999; 36: 494-496. doi:10.1136/jmg.36.6.494 [Extract] [Full text] [PDF] [Request Permissions]
	45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines MAURIZIO GENUARDI, M GRAZIA POMPONI, LOREDANA TORRISI, GIOVANNI NERI, M LETIZIA STAGNI, and CARLA TOZZI J Med Genet 1999; 36: 496-498. doi:10.1136/jmg.36.6.496 [Extract] [Full text] [Request Permissions]
	Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil ANDRÉIA M L VERCESI, MARIA RAQUEL S CARVALHO, MARCOS J B AGUIAR, and SÉRGIO D J PENA J Med Genet 1999; 36: 498. doi:10.1136/jmg.36.6.498 [Extract] [Full text] [Request Permissions]
	Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis D STEINBERGER, U MÜLLER, T H JÜNGER, H P HOWALDT, and P CHRISTOPHIS J Med Genet 1999; 36: 499-500. doi:10.1136/jmg.36.6.499 [Extract] [Full text] [Request Permissions]
	Smith-Magenis syndrome and tetralogy of Fallot ELIZABETH SWEENEY, IAN PEART, MAGDI TOFEIG, and BRONWYN KERR J Med Genet 1999; 36: 501-502. doi:10.1136/jmg.36.6.501 [Extract] [Full text] [Request Permissions]