Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 19 (11), 82

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


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

Chelsea Lowther et al. Curr Psychiatry Rep.


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.

Similar articles

See all similar articles

Cited by 9 PubMed Central articles

See all "Cited by" articles


    1. Eur J Hum Genet. 2015 Jan;23(1):4-7 - PubMed
    1. Nat Genet. 2006 Sep;38(9):1038-42 - PubMed
    1. Am J Hum Genet. 2014 May 1;94(5):677-94 - PubMed
    1. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):367-380 - PubMed
    1. Am J Psychiatry. 2010 Aug;167(8):899-914 - PubMed

LinkOut - more resources