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Velocardiofacial syndrome with a rare t(2;22)

Authors
  • Huber, Jair
  • Rainho, Claudia A.
  • Gomes, Marcus V.
  • Santos, Silvio A.
  • Ramos, Ester S.
Publication Date
Jul 01, 2007
Source
Acervo Digital da Unesp
Keywords
Language
English
License
Unknown
External links

Abstract

Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in some specific regions in these chromosomes. Patients with DiGeorge and Velocardiofacial syndromes have a deletion on 22q11 leading to haploinsufficiency for one or more gene(s). We report a patient with velocardiofacial syndrome in which cytogenetic and fluorescence in situ hybridization analysis showed a rare t(2;22) and deletion in the 22q11 region. © 2007 Lippincott Williams & Wilkins, Inc.

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