Review articles

	Human gene mutations causing infertility L C Layman J Med Genet 2002; 39: 153-161. doi:10.1136/jmg.39.3.153 [Abstract] [Full text] [PDF] [Request Permissions]
	Leber hereditary optic neuropathy P Y W Man, D M Turnbull, and P F Chinnery J Med Genet 2002; 39: 162-169. doi:10.1136/jmg.39.3.162 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q J A Fantes, S K Mewborn, C M Lese, J Hedrick, R L Brown, V Dyomin, R S K Chaganti, S L Christian, and D H Ledbetter J Med Genet 2002; 39: 170-177. doi:10.1136/jmg.39.3.170 [Abstract] [Full text] [PDF] [Request Permissions]
	Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas B E Baysal, J E Willett-Brozick, E C Lawrence, C M Drovdlic, S A Savul, D R McLeod, H A Yee, D E Brackmann, W H Slattery, III, E N Myers, R E Ferrell, and W S Rubinstein J Med Genet 2002; 39: 178-183. doi:10.1136/jmg.39.3.178 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Omphalocele in three generations with autosomal dominant transmission S L Kanagawa, M L Begleiter, D J Ostlie, G Holcomb, W Drake, and M G Butler J Med Genet 2002; 39: 184-185. doi:10.1136/jmg.39.3.184 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2 C M Armour, M E McCready, A Baig, A G W Hunter, and D E Bulman J Med Genet 2002; 39: 186-188. doi:10.1136/jmg.39.3.186 [Extract] [Full text] [PDF] [Request Permissions]
	A Val227Ala polymorphism in the peroxisome proliferator activated receptor (PPAR) gene is associated with variations in serum lipid levels K Yamakawa-Kobayashi, H Ishiguro, T Arinami, R Miyazaki, and H Hamaguchi J Med Genet 2002; 39: 189-191. doi:10.1136/jmg.39.3.189 [Extract] [Full text] [PDF] [Request Permissions]
	ATM mutations in Finnish breast cancer patients M Allinen, V Launonen, K Laake, L Jansen, P Huusko, H Kääriäinen, A-L Børresen-Dale, and R Winqvist J Med Genet 2002; 39: 192-196. doi:10.1136/jmg.39.3.192 [Extract] [Full text] [PDF] [Request Permissions]
	A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype J Tarleton, A Kenneson, A K Taylor, K Crandall, R Fletcher, R Casey, P S Hart, D Hatton, G Fisch, and S T Warren J Med Genet 2002; 39: 196-200. doi:10.1136/jmg.39.3.196 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaicism for FMR1 and FMR2 deletion: a new case S Fengler, S Fuchs, R König, and J Arnemann J Med Genet 2002; 39: 200-201. doi:10.1136/jmg.39.3.200 [Extract] [Full text] [PDF] [Request Permissions]
	Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region M G Butler, D Bittel, and Z Talebizadeh J Med Genet 2002; 39: 202-204. doi:10.1136/jmg.39.3.202 [Extract] [Full text] [PDF] [Request Permissions]
	The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation R G F Gray, P A Davies, A Marshall, and S K Heath J Med Genet 2002; 39: 204-205. doi:10.1136/jmg.39.3.204 [Extract] [Full text] [PDF] [Request Permissions]
	An aetiological study of 25 mentally retarded adults with autism C D M van Karnebeek, I van Gelderen, G J Nijhof, N G Abeling, P Vreken, E J Redeker, A M van Eeghen, J M N Hoovers, and R C M Hennekam J Med Genet 2002; 39: 205-213. doi:10.1136/jmg.39.3.205 [Extract] [Full text] [Web-only appendices] [PDF] [Request Permissions]
	Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions D Concolino, M A Iembo, E Rossi, S Giglio, G Coppola, E Miraglia del Giudice, and P Strisciuglio J Med Genet 2002; 39: 214-216. doi:10.1136/jmg.39.3.214 [Extract] [Full text] [PDF] [Request Permissions]
	Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome V P Sybert J Med Genet 2002; 39: 217-220. doi:10.1136/jmg.39.3.217 [Extract] [Full text] [PDF] [Request Permissions]
	Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome J A Goodship, J O'Sullivan, P F Chinnery, A K Ryan, N Ziakas, C M Hall, and M Clarke J Med Genet 2002; 39: 221-223. doi:10.1136/jmg.39.3.221 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Genes versus environment in ocular refraction J Med Genet 2002; 39: 177. doi:10.1136/jmg.39.3.177 [Extract] [Full text] [PDF] [Request Permissions]
	ARC syndrome is not so rare J Med Genet 2002; 39: 183. doi:10.1136/jmg.39.3.183 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? R M W Hofstra, P Elfferich, J Osinga, E Verlind, E Fransen, J López Pisón, C E M de Die-Smulders, I Stolte-Dijkstra, and C H C M Buys J Med Genet 2002; 39: e11. doi:10.1136/jmg.39.3.e11 [Extract] [Full text] [PDF] [Request Permissions]
	Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany U Hamann, X Liu, S Lange, H U Ulmer, A Benner, and R J Scott J Med Genet 2002; 39: e12. doi:10.1136/jmg.39.3.e12 [Extract] [Full text] [PDF] [Request Permissions]
	Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q M P Hitchins, S Abu-Amero, S Apostolidou, D Monk, P Stanier, M A Preece, and G E Moore J Med Genet 2002; 39: e13. doi:10.1136/jmg.39.3.e13 [Extract] [Full text] [PDF] [Request Permissions]
	Human T and risk for neural tube defects B Richter, A H Schultealbert, and M C Koch J Med Genet 2002; 39: e14. doi:10.1136/jmg.39.3.e14 [Extract] [Full text] [PDF] [Request Permissions]
	Reproductive counselling for women with myotonic dystrophy A C Magee, A E Hughes, A Kidd, A Lopez de Munain, A M Cobo, K Kelly, J Dean, and N C Nevin J Med Genet 2002; 39: e15. doi:10.1136/jmg.39.3.e15 [Extract] [Full text] [PDF] [Request Permissions]