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Nat Rev Neurosci. 2010 Jun;11(6):402-16. doi: 10.1038/nrn2841.

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Author information

1
Department of Psychiatry, Columbia University Medical Center, 1051 Riverside Drive, New York, New York 10032, USA. mk2758@columbia.edu

Abstract

Recent studies are beginning to paint a clear and consistent picture of the impairments in psychological and cognitive competencies that are associated with microdeletions in chromosome 22q11.2. These studies have highlighted a strong link between this genetic lesion and schizophrenia. Parallel studies in humans and animal models are starting to uncover the complex genetic and neural substrates altered by the microdeletion. In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders.

PMID:
20485365
PMCID:
PMC2977984
DOI:
10.1038/nrn2841
[Indexed for MEDLINE]
Free PMC Article

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