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

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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

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Klippel-Trenaunay-Weber Syndrome
Blood Vessels
Chromosomes
Chromosome Breakpoints
Vascular Malformations
Fluorescence In Situ Hybridization
Genes
Organism Cloning
Extremities

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. / Wang, Q.; Timur, A. A.; Szafranski, P.; Sadgephour, A.; Jurecic, V.; Cowell, John Kenneth; Baldini, A.; Driscoll, D. J.

In: Cytogenetics and Cell Genetics, Vol. 95, No. 3-4, 26.06.2002, p. 183-188.

Research output: Contribution to journalArticle

Wang, Q, Timur, AA, Szafranski, P, Sadgephour, A, Jurecic, V, Cowell, JK, Baldini, A & Driscoll, DJ 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, vol. 95, no. 3-4, pp. 183-188.
Wang, Q. ; Timur, A. A. ; Szafranski, P. ; Sadgephour, A. ; Jurecic, V. ; Cowell, John Kenneth ; Baldini, A. ; Driscoll, D. J. / Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome. In: Cytogenetics and Cell Genetics. 2002 ; Vol. 95, No. 3-4. pp. 183-188.
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AU - Sadgephour, A.

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AU - Cowell, John Kenneth

AU - Baldini, A.

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