Velocardiofacial syndrome with a rare t(2;22)
- Authors
- Publication Date
- Jul 01, 2007
- Identifiers
- DOI: 10.1097/MCD.0b013e3280fa81de
- OAI: oai:acervodigital.unesp.br:11449/69734
- Source
- Acervo Digital da Unesp
- Keywords
- Language
- English
- License
- White
- 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.