Klippel‐Trenaunay‐Weber syndrome associated with a 5:11 balanced translocation
- 4 December 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (4) , 492-494
- https://doi.org/10.1002/ajmg.1320590416
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 has 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
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