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Case Reports
. 1995 Dec 4;59(4):492-4.
doi: 10.1002/ajmg.1320590416.

Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation

A J Whelan  1 , M S Watson, F D Porter, R D Steiner
Affiliations
Case Reports

Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation

A J Whelan et al. Am J Med Genet. .

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.

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