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What a psychiatrist needs to know about copy number variants

Kirov, George, Rees, Elliott and Walters, James Tynan Rhys 2015. What a psychiatrist needs to know about copy number variants. BJPscyh Advances 21 (3) , pp. 157-163. 10.1192/apt.bp.113.012039

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Abstract

Copy number variants (CNVs) are structural changes in chromosomes that result in deletions, duplications, inversions or translocations of large DNA segments. Eleven confirmed CNV loci have been identified as rare but important risk factors in schizophrenia. These CNVs are also associated with other neurodevelopmental disorders and medical/physical comorbidities. Although the penetrance of the CNVs for schizophrenia (the chance that CNV carriers will develop the disorder) is modest, the penetrance of CNVs for any early-onset developmental disorder (e.g. intellectual disability or autism) is much higher. Testing for CNVs is now affordable and being used in clinical genetics and neurodevelopmental disorders clinics. It is possible that testing will be expanded to psychiatric clinics. This article provides a clinically relevant overview of recent CNV findings in schizophrenia and related disorders.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Royal College of Psychiatrists
ISSN: 2056-4678
Last Modified: 22 Jun 2019 21:07
URI: http://orca.cf.ac.uk/id/eprint/84697

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