Velocardiofacial syndrome with a rare t(2;22)
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Data
2007-07-01
Autores
Huber, Jair
Rainho, Claudia A.
Gomes, Marcus V.
Santos, Silvio A.
Ramos, Ester S.
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Resumo
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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Palavras-chave
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
Como citar
Clinical Dysmorphology, v. 16, n. 3, p. 181-183, 2007.