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Developmental psychopathology: The role of structural variation in the genome

Published online by Cambridge University Press:  15 October 2012

Michael Gill
Michael Gill*
Affiliation:
Trinity College, Dublin
*
Address correspondence and reprint requests to: Michael Gill, Department of Psychiatry, Trinity Centre, St. James’ Hospital, Dublin 8, Ireland; E-mail: mgill@tcd.ie.
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Abstract

A wide range of developmental disorders present with characteristic psychopathologies and behaviors, with diagnoses including, inter alia, cognitive disorders and learning disabilities, epilepsies, autism, and schizophrenia. Each, to varying extent, has a genetic component to etiology and is associated with cytogenetic abnormalities. Technological developments, particularly array-based comparative genome hybridization and single nucleotide polymorphism chips, has revealed a wide range of rare recurrent and de novo copy number variants (CNVs) to be associated with disorder and psychopathology. It is surprising that many apparently similar CNVs are identified across two or more disorders hitherto considered unrelated. This article describes the characteristics of CNVs and current technological restrictions that make accurately identifying small events difficult. It summarizes the latest discoveries for individual diagnostic categories and considers the implications for a shared neurobiology. It examines likely developments in the knowledge base as well as addressing the clinical implications going forward.

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Development and Psychopathology , Volume 24 , Issue 4: Contributions of the Genetic/Genomic Sciences to Developmental Psychopathology , November 2012 , pp. 1319 - 1334
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Copyright © Cambridge University Press 2012

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