916 resultados para t(2, 22)


Relevância:

100.00% 100.00%

Publicador:

Relevância:

100.00% 100.00%

Publicador:

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.

Relevância:

100.00% 100.00%

Publicador:

Resumo:

Recurso electrónico. Valencia: BVNP, 2014