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Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation
A J Whelan1, M S Watson, F D Porter
1Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
American Journal of Medical Genetics
|December 4, 1995
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.