Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

ABSTRACT:

Background

One genetic mechanism known to be associated with autism spectrum disorders (ASD) is chromosomal abnormalities. The identification of copy number variants (CNV), i.e., microdeletions and microduplications that are undetectable at the level of traditional cytogenetic analysis, allows the potential association of submicroscopic chromosomal imbalances and human disease.

Methods

We performed array comparative genomic hybridization (aCGH) utilizing a 19K whole genome tiling path bacterial artificial chromosome (BAC) microarray on 397 unrelated subjects with autism spectrum disorder. Common CNV were excluded using a control group comprised of 372 individuals from the National Institute of Mental Health (NIMH) Genetics Initiative Control samples. Confirmation studies wer

SUBMITTER: Christian SL 

PROVIDER: S-EPMC2440346 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature