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Velocardiofacial syndrome with a rare t(2;22)

Huber, Jaira; Rainho, Claudia A.c; Gomes, Marcus V.a; Santos, Silvio A.a; Ramos, Ester S.a b

doi: 10.1097/MCD.0b013e3280fa81de
Short Case Reports

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.

Departments of aGenetics

bObstetrics and Gynecology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto

cDepartment of Genetics, Biosciences Institute, University of São Paulo State, Botucatu, São Paulo, Brazil

Correspondence to Ester S. Ramos, Departamento de Genética da Faculdade de Medicina de Ribeirão Preto – USP. Av. Bandeirantes, 3900, Bloco – C. CEP: 14049-900. Ribeirão Preto, SP, Brasil

Tel: +55 16 3602 3081; e-mail: esramos@rge.fmrp.usp.br

Received 28 August 2006 Accepted 8 February 2007

© 2007 Lippincott Williams & Wilkins, Inc.