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

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.

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

“…42 In addition, a patient with a balanced translocation between chromosomes 5q13.3 and 11p15.1 was found in Klippel -Trenaunay syndrome. 43 Thus, it is possible that inherited CMs, familial hemangiomas and KlippelTrenaunay syndrome, three conditions with capillary involvement, share some common pathogenic mechanisms.…”

Klippel-Trenaunay Syndrome Accompanied by the Findings of Scoliosis and Spinal Nerve Root Compression Due to AVM

“…There is some evidence that it may be associated with a translocation at (8;14) (q22.3;q13). Some researchers have suggested that VG5Q (Vasculogenesis gene on 5q protein) has an association (7)(8)(9)(10)(11).…”

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