Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

Q. Wang, A. A. Timur, P. Szafranski, A. Sadgephour, V. Jurecic, John Kenneth Cowell, A. Baldini, D. J. Driscoll

Research output: Contribution to journalArticle

44 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)183-188
Number of pages6
JournalCytogenetics and Cell Genetics
Volume95
Issue number3-4
StatePublished - Jun 26 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

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    Wang, Q., Timur, A. A., Szafranski, P., Sadgephour, A., Jurecic, V., Cowell, J. K., Baldini, A., & Driscoll, D. J. (2002). Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. Cytogenetics and Cell Genetics, 95(3-4), 183-188.