KLIPPEL-TRENAUNAY-WEBER-SYNDROME ASSOCIATED WITH A 5 11 BALANCED TRANSLOCATION/

Authors
WHELAN AJ WATSON MS PORTER FD STEINER RD
Citation
Aj. Whelan et al., KLIPPEL-TRENAUNAY-WEBER-SYNDROME ASSOCIATED WITH A 5 11 BALANCED TRANSLOCATION/, American journal of medical genetics, 59(4), 1995, pp. 492-494
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
59
Issue
4
Year of publication
1995
Pages
492 - 494
Database
ISI
SICI code
0148-7299(1995)59:4<492:KAWA51>2.0.ZU;2-1
Abstract
We report on a case of Klippel-Trenaunay Weber syndrome (KTWS) associa ted with a reciprocal translocation [46,XX,t(5;11)(q13.3; p15.1)]. The patient had developmental delay and minor anomalies in addition to cl assic findings of KTWS, These data support the notion that Klippel-Tre naunay-Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel-Trenaunay-Weber gene(s) to 5q o r 11p. (C) 1995 Wiley-Liss, Inc.