De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

ABSTRACT:

Background

Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our previous study, we identified a unique individual with a de novo 17q25.3 deletion from a study of 714 individuals with CVM.

Methods

To understand the contribution of this locus to cardiac malformations, we reviewed the data on 60,000 samples submitted for array comparative genomic hybridization (CGH) studies to Medical Genetics Laboratories at Baylor College of Medicine, and ascertained seven individuals with segmental aneusomy of 17q25. We validated our findings by studying another individual with a de novo submicroscopic deletion of this region from Cytogenetics Laboratory at Cincinnati Children's Hospital

SUBMITTER: Probst FJ 

PROVIDER: S-EPMC4472615 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature