Velocardiofacial syndrome with a rare t(2;22)


Autoria(s): Huber, Jair; Rainho, Claudia A.; Gomes, Marcus V.; Santos, Silvio A.; Ramos, Ester S.
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

27/05/2014

27/05/2014

01/07/2007

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.

Formato

181-183

Identificador

http://dx.doi.org/10.1097/MCD.0b013e3280fa81de

Clinical Dysmorphology, v. 16, n. 3, p. 181-183, 2007.

0962-8827

http://hdl.handle.net/11449/69734

10.1097/MCD.0b013e3280fa81de

2-s2.0-34250005988

Idioma(s)

eng

Relação

Clinical Dysmorphology

Direitos

closedAccess

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
Tipo

info:eu-repo/semantics/article