A MALE WITH A DE-NOVO TRANSLOCATION INVOLVING LOSS OF 15Q11Q13 MATERIAL AND PRADER-WILLI-SYNDROME

Authors
VICKERS S DAHLITZ M HARDY C KILPATRICK M WEBB T
Citation
S. Vickers et al., A MALE WITH A DE-NOVO TRANSLOCATION INVOLVING LOSS OF 15Q11Q13 MATERIAL AND PRADER-WILLI-SYNDROME, Journal of Medical Genetics, 31(6), 1994, pp. 478-481
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
6
Year of publication
1994
Pages
478 - 481
Database
ISI
SICI code
0022-2593(1994)31:6<478:AMWADT>2.0.ZU;2-D
Abstract
A male proband is described who carries a de novo translocation betwee n chromosomes Y and 15 associated with Prader-Willi syndrome. In situ hybridisation and molecular studies were used to show loss of the pate rnally derived 15q11q13 region in the translocated chromosome. Lack of further symptoms indicate that this region was lost with no apparent deletion of the Y chromosome.