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
(∼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.
Keywords
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Article info
Publication history
Accepted:
May 4,
1999
Received in revised form:
February 25,
1999
Received in revised form:
May 3,
1999
Received:
October 2,
1998
Identification
Copyright
© 1999 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
