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  • Title: Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.
    Author: Whelan AJ, Watson MS, Porter FD, Steiner RD.
    Journal: Am J Med Genet; 1995 Dec 04; 59(4):492-4. PubMed ID: 8585570.
    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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