Ontology highlight
ABSTRACT:
SUBMITTER: Girirajan S
PROVIDER: S-EPMC3494411 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
The New England journal of medicine 20120912 14
<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Among the affected children, 10.1% ca ...[more]