title: 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.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
authors.forename: A J
authors.initials: AJ
authors.lastname: Whelan
authors.forename: M S
authors.initials: MS
authors.lastname: Watson
authors.forename: F D
authors.initials: FD
authors.lastname: Porter
authors.forename: R D
authors.initials: RD
authors.lastname: Steiner
mesh_terms: 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