Huber, JairRainho, Claudia A.Gomes, Marcus V.Santos, Silvio A.Ramos, Ester S.2014-05-272014-05-272007-07-01Clinical Dysmorphology, v. 16, n. 3, p. 181-183, 2007.0962-8827http://hdl.handle.net/11449/69734Rearrangements 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.181-183engChromosome 2Chromosome 22q11t(2, 22)Velocardiofacial syndromebehavior disordercase reportchildchromosome 2chromosome 22chromosome deletioncytogeneticsDiGeorge syndromeechocardiographyelectroencephalogramface malformationfluorescence in situ hybridizationfocal epilepsyheart murmurhumankaryotypelearning disordermalepriority journalvelocardiofacial syndromeChild, PreschoolChromosomes, Human, Pair 2Chromosomes, Human, Pair 22DiGeorge SyndromeHumansKaryotypingMaleTranslocation, GeneticArtigo10.1097/MCD.0b013e3280fa81deAcesso restrito2-s2.0-3425000598888148235451595040000-0002-0285-1162