Review articles

	Autosomal dominant sacral agenesis: Currarino syndrome Sally Ann Lynch, Yiming Wang, T Strachan, John Burn, and Susan Lindsay J Med Genet 2000; 37: 561-566. doi:10.1136/jmg.37.8.561 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium Peter S Harper, Caron Lim, Craufurd David, and on behalf of the UK Huntington's Disease Prediction Consortium J Med Genet 2000; 37: 567-571. doi:10.1136/jmg.37.8.567 [Abstract] [Full text] [PDF] [Request Permissions]
	RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease Salud Borrego, Agustín Ruiz, María Eugenia Saez, Oliver Gimm, Xin Gao, Manuel López-Alonso, Antonio Hernández, Fred A Wright, Guillermo Antiñolo, and Charis Eng J Med Genet 2000; 37: 572-578. doi:10.1136/jmg.37.8.572 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients Sandrine Vuillaumier-Barrot, Gilles Hetet, Anne Barnier, Thierry Dupré, Maryvonne Cuer, Pascale de Lonlay, Valérie Cormier-Daire, Geneviève Durand, Bernard Grandchamp, and Nathalie Seta J Med Genet 2000; 37: 579-580. doi:10.1136/jmg.37.8.579 [Abstract] [Full text] [PDF] [Request Permissions]
	Detailed mapping of a congenital heart disease gene in chromosome 3p25 Elaine K Green, Matthew D Priestley, Jonathan Waters, Chris Maliszewska, Farida Latif, and Eamonn R Maher J Med Genet 2000; 37: 581-587. doi:10.1136/jmg.37.8.581 [Abstract] [Full text] [PDF] [Request Permissions]
	The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers J M D Wheeler, A Loukola, L A Aaltonen, N J McC Mortensen, and W F Bodmer J Med Genet 2000; 37: 588-592. doi:10.1136/jmg.37.8.588 [Abstract] [Full text] [PDF] [Request Permissions]
	FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY Stefan Kirsch, B Weiss, M De Rosa, T Ogata, G Lombardi, and G A Rappold J Med Genet 2000; 37: 593-599. doi:10.1136/jmg.37.8.593 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy B C Gohlke, K Haug, M Fukami, W Friedl, M Noeker, G A Rappold, and F Haverkamp J Med Genet 2000; 37: 600-602. doi:10.1136/jmg.37.8.600 [Abstract] [Full text] [PDF] [Request Permissions]
	Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype Rob Willemsen, Renske Olmer, Yolanda De Diego Otero, and Ben A Oostra J Med Genet 2000; 37: 603-604. doi:10.1136/jmg.37.8.603 [Abstract] [Full text] [PDF] [Request Permissions]

Clinical genetics in practice

	A survey of the current clinical facilities for the management of familial cancer in Europe S V Hodgson, M Caligo, J Chang-Claude, D Eccles, G Evans, P Møller, P Morrison, C M Steel, and D Stoppa-Lyonnet J Med Genet 2000; 37: 605-607. doi:10.1136/jmg.37.8.605 [Extract] [Full text] [Full survey details] [PDF] [Request Permissions]

Letters to the editor

	Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome K OBATA, T MATSUISHI, Y YAMASHITA, T FUKUDA, K KUWAJIMA, I HORIUCHI, S NAGAMITSU, R IWANAGA, A KIMURA, I OMORI, S ENDO, K MORI, and I KONDO J Med Genet 2000; 37: 608-610. doi:10.1136/jmg.37.8.608 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations in the MECP2 gene in a cohort of girls with Rett syndrome KIM HAMPSON, C GEOFFREY WOODS, FARIDA LATIF, and TESSA WEBB J Med Genet 2000; 37: 610-612. doi:10.1136/jmg.37.8.610 [Extract] [Full text] [PDF] [Request Permissions]
	Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation NICOLETTA VILLA, ELENA SALA, DANIELA COLOMBO, MARIAGRAZIA DELL'ORTO, DANIELE GRIONI, and LEDA DALPRÀ J Med Genet 2000; 37: 612-615. doi:10.1136/jmg.37.8.612 [Extract] [Full text] [PDF] [Request Permissions]
	A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma FRANCISCO SÁNCHEZ, EMILIA MATEU, MAGDALENA BENEYTO, CARMEN NÁJERA, and FÉLIX PRIETO J Med Genet 2000; 37: 615-620. doi:10.1136/jmg.37.8.615 [Extract] [Full text] [PDF] [Request Permissions]
	The gene for branchio-oculo-facial syndrome does not colocalise to the EYA1-4 genes LINA SUSANA CORREA-CERRO, INGO KENNERKNECHT, WALTER JUST, WALTHER VOGEL, and DIETMAR MÜLLER J Med Genet 2000; 37: 620-623. doi:10.1136/jmg.37.8.620 [Extract] [Full text] [PDF] [Request Permissions]
	Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes SARAH RICKARD, MAUREEN BOXER, RICHARD TROMPETER, and MARIA BITNER-GLINDZICZ J Med Genet 2000; 37: 623-627. doi:10.1136/jmg.37.8.623 [Extract] [Full text] [PDF] [Request Permissions]
	Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid CARL A GREGORY, BERNHARD ZABEL, MICHAEL E GRANT, RAYMOND P BOOT-HANDFORD, and GILLIAN A WALLIS J Med Genet 2000; 37: 627-629. doi:10.1136/jmg.37.8.627 [Extract] [Full text] [PDF] [Request Permissions]
	The relationship between neonatal immunoreactive trypsinogen, F508, and IVS8-5T JOHN MASSIE, DESIREE DU SART, KARINA FORSHAW, JOHN CARLIN, and S M FORREST J Med Genet 2000; 37: 629-632. doi:10.1136/jmg.37.8.629 [Extract] [Full text] [PDF] [Request Permissions]
	Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland M POYHONEN, S KYTÖLÄ, and J LEISTI J Med Genet 2000; 37: 632-636. doi:10.1136/jmg.37.8.632 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic registers in clinical practice: a survey of UK clinical geneticists JOHN C S DEAN, DAVID R FITZPATRICK, PETER A FARNDON, HELEN KINGSTON, and DOUGLAS CUSINE J Med Genet 2000; 37: 636. doi:10.1136/jmg.37.8.636 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Duplication of medial 15q confirmed by FISH C E BROWNE, E HATCHWELL, A PROTOPAPOS, and J RAMOS J Med Genet 2000; 37: e10. doi:10.1136/jmg.37.8.e10 [Extract] [Full text] [CORRECTION] [PDF] [Request Permissions]
	A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q M L WHITEFORD, C BAIRD, S KINMOND, B DONALDSON, and H R DAVIDSON J Med Genet 2000; 37: e11. doi:10.1136/jmg.37.8.e11 [Extract] [Full text] [PDF] [Request Permissions]
	A family with hereditary port wine stain JONATHAN N BERG, A A QUABA, A GEORGANTOPOULOU, and MARY E M PORTEOUS J Med Genet 2000; 37: e12. doi:10.1136/jmg.37.8.e12 [Extract] [Full text] [PDF] [Request Permissions]
	Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families CAROL PORTWINE, JODI LEES, SIGITAS VERSELIS, FREDERICK P LI, and DAVID MALKIN J Med Genet 2000; 37: e13. doi:10.1136/jmg.37.8.e13 [Extract] [Full text] [PDF] [Request Permissions]
	Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31 MERIEL McENTAGART, GILLIAN SPURLOCK, CHARLES JACKSON, PETER HARPER, and NAZNEEN RAHMAN J Med Genet 2000; 37: e14. doi:10.1136/jmg.37.8.e14 [Extract] [Full text] [PDF] [Request Permissions]
	Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele MARC J ABRAMOWICZ, BARBARA DESSARS, CLAUDE SEVENS, MICHEL GOOSSENS, and EMMANUELLE GIRODON BOULANDET J Med Genet 2000; 37: e15. doi:10.1136/jmg.37.8.e15 [Extract] [Full text] [PDF] [Request Permissions]
	Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia MARIS TEDER, TIINA KLAASSEN, ENELI OITMAA, KRISTA KAASIK, and ANDRES METSPALU J Med Genet 2000; 37: e16. doi:10.1136/jmg.37.8.e16 [Extract] [Full text] [PDF] [Request Permissions]