Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

ABSTRACT:

Background

Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number variation (CNV) has been highlighted as a possible contributing factor to the etiology of many congenital diseases. However, little is known concerning the involvement of CNVs in either isolated or complex VSDs.

Methods

We analyzed 154 unrelated Chinese individuals with VSD by chromosomal microarray analysis. The subjects were recruited from four hospitals across China. Each case underwent clinical assessment to define the type of VSD, either isolated or complex VSD. CNVs detected were categorized into syndrom related CNVs, recurrent CNVs and rare CNVs. Gene

SUBMITTER: An Y 

PROVIDER: S-EPMC4705616 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature