Velocardiofacial syndrome with a rare t(2;22) |
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Authors: | Huber Jair Rainho Claudia A Gomes Marcus V Santos Silvio A Ramos Ester S |
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Affiliation: | Department of Genetics, School of Medicine of Ribeir?o Preto, University of S?o Paulo, Ribeir?o Preto, S?o Paulo, Brazil. |
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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. |
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