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PMID: 10509171 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

22q11 deletion syndrome: a genetic subtype of schizophrenia.

Biological psychiatry ·Vol. 46 ·No. 7 ·1999-10-01 ·Pages 882-91

Bassett AS, Chow EW

Abstract

Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with susceptibility genes and/or nongenetic causes. Recent evidence supports the likelihood that 22q11 Deletion Syndrome (22qDS) represents an identifiable genetic subtype of schizophrenia. 22qDS is an under-recognized genetic syndrome associated with microdeletions on chromosome 22 and a variable expression that often includes mild congenital dysmorphic features, hypernasal speech, and learning difficulties. Initial evidence indicates that a minority of patients with schizophrenia (approximately 2%) may have 22qDS and that prevalence may be somewhat higher in subpopulations with developmental delay. This paper proposes clinical criteria (including facial features, learning disabilities, hypernasal speech, congenital heart defects and other congenital anomalies) to aid in identifying patients with schizophrenia who may have this subtype and outlines features that may increase the index of suspicion for this syndrome. Although no specific causal gene or genes have yet been identified in the deletion region, 22qDS may represent a more homogeneous subtype of schizophrenia. This subtype may serve as a model for neurodevelopmental origins of schizophrenia that could aid in delineating etiologic and pathogenetic mechanisms.

MeSH Terms
Chromosome Deletion Chromosomes, Human, Pair 22 Genetic Predisposition to Disease/genetics Humans Schizophrenia/classification,diagnosis,genetics Schizophrenic Psychology Syndrome
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Bassett A S
Schizophrenia Research Program, Centre for Addiction & Mental Health, Queen Street Division, Toronto, Ontario, Canada.
Chow E W
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Article Info
Journal
Biological psychiatry
Abbr.
Biol Psychiatry
ISSN
0006-3223
DOI
10.1016/s0006-3223(99)00114-6
Published
1999-10-01
Pages
882-91
Language
English
Region
United States
NLM ID
0213264
PMCID
PMC3276595
Subset
IM
Grants
Canadian Institutes of Health Research · 79518 · Canada
Corrections
CommentIn
PMID: 10509169
External Links
PubMed source DOI: 10.1016/s0006-3223(99)00114-6 PMC Full Text View journal details
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