Klippel‐Trenaunay‐Weber syndrome associated with a 5:11 balanced translocation
Authors:
- Michael S. WatsonMWMichael S. Watson
- Forbes D. PorterFPForbes D. Porter
- Robert D. SteinerRSRobert D. Steiner
- 4 December 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (4) , 492-494
Abstract
We report on a case of Klippel‐Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t(5;11)(q13.3;p15.1)]. The patient had developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel‐Trenaunay‐Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel‐Trenaunay‐Weber gene(s) to 5q or 11p.Keywords
This publication has 6 references indexed in Scilit:
- Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndromeNature Genetics, 1993
- Klippel-Trenaunay syndrome: is it a paradominant trait?British Journal of Dermatology, 1993
- Uniparental paternal disomy in a genetic cancer-predisposing syndromeNature, 1991
- Chromosomal localization of the gene encoding GTPase-activating protein (RASA) to human chromosome 5, bands q13–q15Genomics, 1990
- Dominant inheritance of Wiedemann-Beckwith syndrome: Further evidence for transmission of “unstable premutation” through carrier womenAmerican Journal of Medical Genetics, 1989
- Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndromeEuropean Journal of Pediatrics, 1983