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Curr Psychiatry Rep. 2017 Sep 20;19(11):82. doi: 10.1007/s11920-017-0831-5.

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Author information

1
Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada.
2
Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
3
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Medical Genetics Residency Training Program, University of Toronto, Toronto, ON, Canada.
4
Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
5
Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada. anne.bassett@utoronto.ca.
6
Institute of Medical Science, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.
7
Department of Psychiatry, University of Toronto, Toronto, ON, Canada. anne.bassett@utoronto.ca.
8
Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome and Toronto General Research Institute, University Health Network, and Campbell Family Mental Health Research Institute, Toronto, ON, Canada. anne.bassett@utoronto.ca.

Abstract

PURPOSE OF REVIEW:

The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance.

RECENT FINDINGS:

Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression. Although individually rare, genomic disorders collectively account for a significant minority of intellectual disability, autism spectrum disorder, and schizophrenia. Genome-wide chromosomal microarray analysis is capable of detecting all genomic disorders in a single test, offering the first opportunity for routine clinical genetic testing in psychiatric practice.

KEYWORDS:

ADHD; Autism; CNV; Copy number variation; Genomic disorder; Schizophrenia

PMID:
28929285
DOI:
10.1007/s11920-017-0831-5
[Indexed for MEDLINE]

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