Review articles

	Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis Samantha J L Knight and Jonathan Flint J Med Genet 2000; 37: 401-409. doi:10.1136/jmg.37.6.401 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Over-representation of PPAR sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population Xiao-Ping Zhou, Wendy M Smith, Oliver Gimm, Elisabetta Mueller, Xin Gao, Pasha Sarraf, Thomas W Prior, Christoph Plass, Andreas von Deimling, Peter McL Black, Allan J Yates, and Charis Eng J Med Genet 2000; 37: 410-414. doi:10.1136/jmg.37.6.410 [Abstract] [Full text] [PDF] [Request Permissions]
	FRAXA and FRAXE: the results of a five year survey Sheila A Youings, Anna Murray, Nick Dennis, Sarah Ennis, Catherine Lewis, Nicky McKechnie, Michelle Pound, Andrea Sharrock, and Patricia Jacobs J Med Genet 2000; 37: 415-421. doi:10.1136/jmg.37.6.415 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness S Nicole Martin, Joanne Sutherland, Alex V Levin, Robert Klose, Megan Priston, and Elise Héon J Med Genet 2000; 37: 422-427. doi:10.1136/jmg.37.6.422 [Abstract] [Full text] [PDF] [Request Permissions]
	Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome Lorraine Potocki, Daniel Glaze, Dun-Xian Tan, Sung-Sup Park, Catherine D Kashork, Lisa G Shaffer, Russel J Reiter, and James R Lupski J Med Genet 2000; 37: 428-433. doi:10.1136/jmg.37.6.428 [Abstract] [Full text] [PDF] [Request Permissions]
	Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation Carole A Sargent, Alexa Kidd, Sue Moore, John Dean, Guy T N Besley, and Nabeel A Affara J Med Genet 2000; 37: 434-441. doi:10.1136/jmg.37.6.434 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot Jörg Weimer, Marion Kiechle, Ute Wiedemann, Holger Tönnies, Heidemarie Neitzel, Eberhard Ruhenstroth, Angela Ovens-Raeder, and Norbert Arnold J Med Genet 2000; 37: 442-445. doi:10.1136/jmg.37.6.442 [Abstract] [Full text] [PDF] [Request Permissions]
	Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF Shelley D Smith, Philip M Kelley, Judith B Kenyon, and Denise Hoover J Med Genet 2000; 37: 446-448. doi:10.1136/jmg.37.6.446 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families K FAGAN, V SOUBJAKI, P DONALD, G TURNER, and M PARTINGTON J Med Genet 2000; 37: 449-452. doi:10.1136/jmg.37.6.449 [Extract] [Full text] [PDF] [Request Permissions]
	Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2 DETLEF TROST, WALTER WIEBE, SIEGFRIED UHLHAAS, PETER SCHWINDT, and GESA SCHWANITZ J Med Genet 2000; 37: 452-454. doi:10.1136/jmg.37.6.452 [Extract] [Full text] [PDF] [Request Permissions]
	Pure trisomy 20p resulting from isochromosome formation and whole arm translocation R U SIDWELL, M-P PINSON, B GIBBONS, S-A BYATT, E C SVENNEVIK, R J HASTINGS, and D M FLYNN J Med Genet 2000; 37: 454-458. doi:10.1136/jmg.37.6.454 [Extract] [Full text] [PDF] [Request Permissions]
	A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype SASKIA ENGELS, JÜRGEN KOHLHASE, and JULIE MCGAUGHRAN J Med Genet 2000; 37: 458-460. doi:10.1136/jmg.37.6.458 [Extract] [Full text] [PDF] [Request Permissions]
	New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes J-P FRYNS and S AFTIMOS J Med Genet 2000; 37: 460-463. doi:10.1136/jmg.37.6.460 [Extract] [Full text] [PDF] [Request Permissions]
	The mitochondrial genome in Wolfram syndrome TIMOTHY G BARRETT, MARTIN SCOTT-BROWN, ANNEKE SELLER, AMY BEDNARZ, KELVIN POULTON, and JOANNA POULTON J Med Genet 2000; 37: 463-466. doi:10.1136/jmg.37.6.463 [Extract] [Full text] [PDF] [Request Permissions]
	Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces S A LYNCH, K HALL, S PRECIOUS, A O M WILKIE, and J A HURST J Med Genet 2000; 37: 466-470. doi:10.1136/jmg.37.6.466 [Extract] [Full text] [PDF] [Request Permissions]
	The psychological impact of a cancer family history questionnaire completed in general practice VIRGINIA LEGGATT, JAMES MACKAY, THERESA M MARTEAU, and JOHN R W YATES J Med Genet 2000; 37: 470-472. doi:10.1136/jmg.37.6.470 [Extract] [Full text] [PDF] [Request Permissions]
	Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer BETTINA MEISER, PHYLLIS BUTOW, ALEXANDRA BARRATT, GRAEME SUTHERS, MERYL SMITH, ALISON COLLEY, ELIZABETH THOMPSON, and KATHERINE TUCKER J Med Genet 2000; 37: 472-476. doi:10.1136/jmg.37.6.472 [Extract] [Full text] [PDF] [Request Permissions]
	Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis MICHELINE LEVY and STÉPHANE RICHARD J Med Genet 2000; 37: 476-479. doi:10.1136/jmg.37.6.476 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction for vol. 36, p. 819 ANU LOUKOLA, ALBERT DE LA CHAPELLE, and LAURI A AALTONEN J Med Genet 2000; 37: 479. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears A W M NIEUWINT, J M VAN HAGEN, Y M HEINS, K MADAN, and L P TEN KATE J Med Genet 2000; 37: e4. doi:10.1136/jmg.37.6.e4 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25) I MARCOS, A RUIZ, C J BLASCHAK, S BORREGO, G R CUTTING, and G ANTIÑOLO J Med Genet 2000; 37: e5. doi:10.1136/jmg.37.6.e5 [Extract] [Full text] [PDF] [Request Permissions]