Genomic copy number variation in disorders of cognitive development.

ABSTRACT:

Objective

To highlight recent discoveries in the area of genomic copy number variation in neuropsychiatric disorders including intellectual disability, autism, and schizophrenia. To emphasize new principles emerging from this area, involving the genetic architecture of disease, pathophysiology, and diagnosis.

Method

Review of studies published in PubMed including classic studies of genomic disorders and microarray and copy number studies in normal controls, intellectual disability, autism, and schizophrenia.

Results

The advent of novel microarray technology has led to a revolution in the discovery of classic and novel copy number variants (CNVs) in various disorders affecting cognitive development. Across autism and schizophrenia, global CNV burden and de novo CNV bur

SUBMITTER: Morrow EM 

PROVIDER: S-EPMC3137887 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature