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Screening of copy number variants in the 22q11.2 region of congenital heart dis...
Pires, Renato; Pires, Luís M.; Vaz, Sara O.; Maciel, Paula; Anjos, Rui; Moniz, Raquel; Branco, Claudia C.; Cabral, Rita; Carreira, Isabel M.Background The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were...
Date: 2014
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Origin: Estudo Geral - Universidade de Coimbra