Velocardiofacial syndrome with a rare t(2;22)
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Wolters Kluwer
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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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Chromosome 2 , Chromosome 22q11 , t(2, 22) , Velocardiofacial syndrome , behavior disorder , case report , child , chromosome 2 , chromosome 22 , chromosome deletion , cytogenetics , DiGeorge syndrome , echocardiography , electroencephalogram , face malformation , fluorescence in situ hybridization , focal epilepsy , heart murmur , human , karyotype , learning disorder , male , priority journal , velocardiofacial syndrome , Child, Preschool , Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 22 , DiGeorge Syndrome , Humans , Karyotyping , Male , Translocation, Genetic
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Clinical Dysmorphology, v. 16, n. 3, p. 181-183, 2007.
