Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

ABSTRACT:

Background

Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.

Methods

We analyzed the genomes of 2312 children known to carry a copy-number variant associated with intellectual disability and congenital abnormalities, using array comparative genomic hybridization.

Results

Among the affected children, 10.1% carried a second large copy-number variant in addition to the primary genetic lesion. We identified seven genomic disorders, each defined by a specific copy-number variant, in which the affected children were more likely to carry multiple copy-number variants than were controls. We found that syndromi

SUBMITTER: Girirajan S 

PROVIDER: S-EPMC3494411 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature