Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.
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.
Whelan
A J
AJ
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Watson
M S
MS
Porter
F D
FD
Steiner
R D
RD
D002648:Child; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000235:genetics*; D014178:Translocation, Genetic