| Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome. | |
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MedLine Citation:
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PMID: 21573985 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the initial discovery of the syndrome, associated developmental delays made it clear that changes in brain development were a key part of the expression. Once patients were followed through childhood into adult years, further neurobehavioural phenotypes became apparent, including a changing cognitive profile, anxiety disorders and seizure diathesis. The variability of expression is as wide as for the myriad physical features associated with the syndrome, with the addition of evolving phenotype over the developmental trajectory. Notably, variability appears unrelated to length of the associated deletion. Several mouse models of the deletion have been engineered and are beginning to reveal potential molecular mechanisms for the cognitive and behavioural phenotypes observable in animals. Both animal and human studies hold great promise for further discoveries relevant to neurodevelopment and associated cognitive, behavioural and psychiatric disorders. |
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Authors:
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Nicole Philip; Anne Bassett |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-15 |
Journal Detail:
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Title: Behavior genetics Volume: - ISSN: 1573-3297 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0251711 Medline TA: Behav Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Multidisciplinary Center for Prenatal Diagnosis, La Timone Children's Hospital, AP-HM, Marseilles, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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