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Article

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

23 Apr 2012

Abstract excerpt

Atrioventricular septal defects (AVSDs) are a frequent but not universal component of Down syndrome (DS), while AVSDs in otherwise normal individuals have no well-defined genetic basis. The contribution of copy number variation (CNV) to specific congenital heart disease (CHD) phenotypes including AVSD is unknown. We hypothesized that de novo CNVs on chromosome 21 might cause isolated sporadic AVSDs, and...

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PMID: 22529060
DOI: 10.1002/ajmg.a.35315

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