Velocardiofacial syndrome with a rare t(2;22)

dc.contributorUniversidade de São Paulo (USP)
dc.contributorUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:22:30Z
dc.date.accessioned2022-10-05T18:07:32Z
dc.date.available2014-05-27T11:22:30Z
dc.date.available2022-10-05T18:07:32Z
dc.date.created2014-05-27T11:22:30Z
dc.date.issued2007-07-01
dc.identifierClinical Dysmorphology, v. 16, n. 3, p. 181-183, 2007.
dc.identifier0962-8827
dc.identifierhttp://hdl.handle.net/11449/69734
dc.identifier10.1097/MCD.0b013e3280fa81de
dc.identifier2-s2.0-34250005988
dc.identifier8814823545159504
dc.identifier0000-0002-0285-1162
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/3919136
dc.description.abstractRearrangements 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.
dc.languageeng
dc.relationClinical Dysmorphology
dc.relation0.427
dc.relation0,268
dc.rightsAcesso restrito
dc.sourceScopus
dc.subjectChromosome 2
dc.subjectChromosome 22q11
dc.subjectt(2, 22)
dc.subjectVelocardiofacial syndrome
dc.subjectbehavior disorder
dc.subjectcase report
dc.subjectchild
dc.subjectchromosome 2
dc.subjectchromosome 22
dc.subjectchromosome deletion
dc.subjectcytogenetics
dc.subjectDiGeorge syndrome
dc.subjectechocardiography
dc.subjectelectroencephalogram
dc.subjectface malformation
dc.subjectfluorescence in situ hybridization
dc.subjectfocal epilepsy
dc.subjectheart murmur
dc.subjecthuman
dc.subjectkaryotype
dc.subjectlearning disorder
dc.subjectmale
dc.subjectpriority journal
dc.subjectvelocardiofacial syndrome
dc.subjectChild, Preschool
dc.subjectChromosomes, Human, Pair 2
dc.subjectChromosomes, Human, Pair 22
dc.subjectDiGeorge Syndrome
dc.subjectHumans
dc.subjectKaryotyping
dc.subjectMale
dc.subjectTranslocation, Genetic
dc.titleVelocardiofacial syndrome with a rare t(2;22)
dc.typeArtigo


Este ítem pertenece a la siguiente institución