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Invited Commentary
March 2017

Understanding Psychiatric Disorders in People With 22q11.2 Deletion and Duplication

Author Affiliations
  • 1Developmental Neuropsychiatry Clinic, The Johns Hopkins University School of Medicine, Baltimore, Maryland
JAMA Psychiatry. 2017;74(3):290-292. doi:10.1001/jamapsychiatry.2016.3948

Microdeletions and microduplications on chromosome 22 at the 22q11.2 locus are associated with increased risk of developing a wide range of cognitive and psychiatric disorders. The most frequent microdeletion syndrome in the general population is the hemizygous microdeletion 22q11.2 deletion syndrome, while microduplications are less common. The deletion sequence involves about 3 million DNA base pairs on 1 copy of chromosome 22 in each cell, involving approximately 40 to 50 genes. A smaller percentage of affected individuals have shorter contiguous gene deletions in the same region. Several genes linked to psychiatric disorder, including catechol-o-methyltransferase (COMT), proline dehydrogenase, and Gnb1L, are in the deletion region.

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