Clinical Dysmorphology

Skip Navigation LinksHome > July 2007 - Volume 16 - Issue 3 > Velocardiofacial syndrome with a rare t(2;22)
Clinical Dysmorphology:
doi: 10.1097/MCD.0b013e3280fa81de
Short Case Reports

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

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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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