Schizophrenia and 22q11.2 deletion syndrome
Open accessAbstract
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.
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There is a correlation between 22q11.2DS and schizophrenia.
“È noto dalla letteratura come ci sia una correlazione tra la 22q11.2DS e la schizofrenia 17”
From Percorso psichiatrico e psicologico per una giovane donna con sindrome da delezione del cromosoma 22 e disabilità intellettiva: un buon outcome (2020) · cites this paper as [17]
Patients with 22q11DS respond similarly to idiopathic schizophrenia patients when treated with antipsychotics.
“Current evidence suggests that patients with 22q11DS respond similarly to idiopathic schizophrenia patients when treated with antipsychotics45,46.”
From Neuronal defects in a human cellular model of 22q11.2 deletion syndrome (2020) · cites this paper as [45]
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- Authors
- Bassett, A. S., & Chow, E. W. C.
- Affiliations
- Centre for Addiction and Mental Health (CA)
- Corresponding author
- Bassett, Anne S.
- Venue
- Current Psychiatry Reports
- Published
- 2008-04
- Volume
- 10
- Issue
- 2
- Pages
- 148-157
- ISSN
- 1523-3812 (ISSN-L)
- 1535-1645
- PMC
- PMC3129332
- OpenAlex
- W2168731009
- Cited by
- 253
- References
- 53
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 13 · 2023: 10 · 2022: 14 · 2021: 24 · 2020: 13 · 2019: 11 · 2018: 20 · 2017: 13 · 2016: 16 · 2015: 12 · 2014: 10 · 2013: 13 · 2012: 15
- FWCI
- 2.01
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Current Psychiatry Reports (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Canadian Institutes of Health Research (79518)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Social Sciences › Arts and Humanities › Philosophy › Mental Health and Psychiatry
- Keywords
- 22q11.2 deletion syndrome, schizophrenia, chromosome 22q11.2 deletion, neurodevelopmental mechanisms, IQ, COMT gene, neuropsychological profile, treatment response, genetic risk factors, phenotypic variability
- MeSH terms
- Chromosome Deletion, Chromosomes, Human, Pair 22, Humans, Risk Factors, Schizophrenia, Syndrome, Gene Expression
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