Velocardiofacial syndrome with a rare t(2;22).
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.
Huber
Jair
J
Departments of Genetics Obstetrics and Gynecology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto Department of Genetics, Biosciences Institute, University of São Paulo State, Botucatu, São Paulo, Brazil.
Rainho
Claudia A
CA
Gomes
Marcus V
MV
Santos
Silvio A
SA
Ramos
Ester S
ES
D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*