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

Am J Med Genet. 1995 Dec 4;59(4):492-4. doi: 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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 5*
  • Female
  • Humans
  • Klippel-Trenaunay-Weber Syndrome / genetics*
  • Translocation, Genetic*