Current Psychiatry Reports

, 19:82 | Cite as

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

  • Chelsea Lowther
  • Gregory Costain
  • Danielle A. Baribeau
  • Anne S. BassettEmail author
Genetic Disorders (F Goes, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Genetic Disorders


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.


Schizophrenia Autism ADHD Genomic disorder Copy number variation CNV 



Chelsea Lowther is supported by a Frederick Banting and Charles Best Canadian Institutes of Health Research Doctoral Award. Anne S. Bassett holds the Dalglish Chair in 22q11.2 Deletion Syndrome at the University Health Network.

Compliance with Ethical Standards

Conflict of Interest

Chelsea Lowther, Gregory Costain, Danielle A. Baribeau, and Anne S. Bassett declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not involve direct studies with human or animal. The article is a review of multiple studies, several of which involve human subjects by the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Chelsea Lowther
    • 1
    • 2
  • Gregory Costain
    • 3
  • Danielle A. Baribeau
    • 4
  • Anne S. Bassett
    • 1
    • 2
    • 4
    • 5
    Email author
  1. 1.Clinical Genetics Research ProgramCentre for Addiction and Mental HealthTorontoCanada
  2. 2.Institute of Medical ScienceUniversity of TorontoTorontoCanada
  3. 3.Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Medical Genetics Residency Training ProgramUniversity of TorontoTorontoCanada
  4. 4.Department of PsychiatryUniversity of TorontoTorontoCanada
  5. 5.Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome and Toronto General Research InstituteUniversity Health Network, and Campbell Family Mental Health Research InstituteTorontoCanada

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