title: Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome.
abstract: Klippel-Trenaunay syndrome (KTS) is a disorder primarily characterized by capillary-venous vascular malformations associated with altered limb bulk and/or length. We report the identification of a balanced translocation involving chromosomes 8q22.3 and 14q13 in a patient with a vascular and tissue overgrowth syndrome consistent with KTS. We demonstrated that translocation t(8;14)(q22.3;q13) arose de novo. These data suggest that a pathogenic gene for a vascular and tissue overgrowth syndrome (KTS) may be located at chromosome 8q22.3 or 14q13. Fluorescence in situ hybridization (FISH) analysis was used to define the breakpoint on chromosome 8q22.3 to a <5-cM interval flanked by markers AFMA082TG9 and GATA25E10, and the 14q13 breakpoint within a 1-cM region between STSs WI-6583 and D14S989. This study provides a framework for the fine-mapping and ultimate cloning of a novel vascular gene at 8q22.3 or 14q13.
authors.affiliation: Center for Molecular Genetics, Lerner Research Institute, Cleveland, Ohio 44195, USA. wangq2@ccf.org
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.forename: A A
authors.initials: AA
authors.lastname: Timur
authors.forename: P
authors.initials: P
authors.lastname: Szafranski
authors.forename: A
authors.initials: A
authors.lastname: Sadgephour
authors.forename: V
authors.initials: V
authors.lastname: Jurecic
authors.forename: J
authors.initials: J
authors.lastname: Cowell
authors.forename: A
authors.initials: A
authors.lastname: Baldini
authors.forename: D J
authors.initials: DJ
authors.lastname: Driscoll
mesh_terms: D000293:Adolescent; D042683:Angiopoietin-1; D002883:Chromosomes, Human, Pair 14; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007715:Klippel-Trenaunay-Weber Syndrome / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D042683:Angiopoietin-1; D008562:Membrane Glycoproteins