Article

Analysis of copy number variants on chromosome 21 in Down syndrome-associated congenital heart defects

2016-12-28

Abstract excerpt

One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs re...

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Literature Corpus work: f29dd627-6cef-534c-99bb-ebfcc1fec60f
DOI: 10.1101/093583

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