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. Copyright (C) 2002 S. Karger AG, Basel.

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; J., Cowell; Baldini, Antonio; D. J., Driscoll. - In: CYTOGENETICS AND CELL GENETICS. - ISSN 0301-0171. - STAMPA. - 95:(2001), pp. 183-188. [10.1159/000059343]

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

BALDINI, ANTONIO;
2001

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. Copyright (C) 2002 S. Karger AG, Basel.
2001
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; J., Cowell; Baldini, Antonio; D. J., Driscoll. - In: CYTOGENETICS AND CELL GENETICS. - ISSN 0301-0171. - STAMPA. - 95:(2001), pp. 183-188. [10.1159/000059343]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/462757
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