Journal of Medical Genetics: 39 (12)

Electronic letters

Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype (1 December, 2002)
I Witters, P Moerman, A Van Assche, J-P Fryns
Behavioural phenotype of Bardet-Biedl syndrome (1 December, 2002)
S Barnett, S Reilly, L Carr, I Ojo, P L Beales, T Charman
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree (1 December, 2002)
A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, M Zatz
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex
(1 December, 2002)
F Sandrini, L S Kirschner, T Bei, C Farmakidis, J Yasufuku-Takano, K Takano, T R Prezant, S J Marx, W E Farrell, R N Clayton, L Groussin, J Bertherat, C A Stratakis
Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation (1 December, 2002)
N P H Chan, M H L Ng, S H Cheng, V Lee, K S Tsang, T T Lau, C K Li
A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex (1 December, 2002)
C R Quilter, N Nathwani, G S Conway, R Stanhope, D Ralph, G Bahadur, P Serhal, K Taylor, J D A Delhanty

Thrombocytopenia-absent radius syndrome: a clinical genetic study (1 December, 2002)
K L Greenhalgh, R T Howell, A Bottani, P J Ancliff, H G Brunner, C C Verschuuren-Bemelmans, E Vernon, K W Brown, R A Newbury-Ecob
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
(1 December, 2002)
T C Hart, M C Gorry, P S Hart, A S Woodard, Z Shihabi, J Sandhu, B Shirts, L Xu, H Zhu, M M Barmada, A J Bleyer
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
(1 December, 2002)
V S Vervoort, D Viljoen, R Smart, G Suthers, B R DuPont, A Abbott, C E Schwartz
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination (1 December, 2002)
P L Roddam, S Rollinson, M O’Driscoll, P A Jeggo, A Jack, G J Morgan
Clinical and genetic studies of Birt-Hogg-Dubé syndrome (1 December, 2002)
S K Khoo, S Giraud, K Kahnoski, J Chen, O Motorna, R Nickolov, O Binet, D Lambert, J Friedel, R Lévy, S Ferlicot, P Wolkenstein, P Hammel, U Bergerheim, M-A Hedblad, M Bradley, B T Teh, M Nordenskjöld, S Richard

Evolution and expression of FOXL2
(1 December, 2002)
J Cocquet, E Pailhoux, F Jaubert, N Servel, X Xia, M Pannetier, E De Baere, L Messiaen, C Cotinot, M Fellous, R A Veitia
Longevity in Schimke immuno-osseous dysplasia (1 December, 2002)
S Lou, P Lamfers, N McGuire, C F Boerkoel
Relationship between clinical and genetic diagnosis of Prader-Willi syndrome (1 December, 2002)
J Whittington, A Holland, T Webb, J Butler, D Clarke, H Boer
Report of a new case of “genitopatellar” syndrome which challenges the importance of absent patellae as a defining feature (1 December, 2002)
L Armstrong, J T R Clarke
Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia (1 December, 2002)
V Juvonen, V Kairisto, M Hietala, M-L Savontaus
Germline mutation of the tumour suppressor PTEN in Proteus syndrome
(1 December, 2002)
J M Smith, E P E Kirk, G Theodosopoulos, G M Marshall, J Walker, M Rogers, M Field, J J Brereton, D J Marsh
Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
(1 December, 2002)
D G R Evans, J M Birch, M Thorneycroft, G McGown, F Lalloo, J M Varley