Schizophrenia and 22q11.2 deletion syndrome

  • Anne S. BassettEmail author
  • Eva W.C. Chow


22q11.2 deletion syndrome (22qDS) is a genetic syndrome associated with a chromosome 22q11.2 deletion and variable phenotypic expression that commonly includes schizophrenia. Approximately 1% of patients with schizophrenia have 22qDS. The schizophrenia in 22qDS appears broadly similar to that found in the general population with respect to core signs and symptoms, treatment response, neurocognitive profile, and MRI brain anomalies. However, individuals with a 22qDS form of schizophrenia typically have distinguishable physical features, have a lower IQ, and may differ in auxiliary clinical features. IQ, length of 22q11.2 deletions, and COMT functional allele do not appear to be major risk factors for schizophrenia in 22qDS. Ascertainment biases and small sample sizes are limitations of most studies. Larger studies over the lifespan and continuing education about this underrecognized condition are needed. 22qDS-schizophrenia is an important genetic subtype and a valuable model of neurodevelopmental mechanisms involved in the pathogenesis of schizophrenia.


Schizophrenia Biol Psychiatry Schizoaffective Disorder 22q11 Deletion Deletion Syndrome 
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Copyright information

© Current Medicine Group LLC 2008

Authors and Affiliations

  1. 1.Centre for Addiction and Mental HealthTorontoCanada

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