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  • Print publication year: 2004
  • Online publication date: August 2010

7 - Velo-cardio-facial syndrome (deletion 22q11.2): a homogeneous neurodevelopmental model for schizophrenia


There is now a very impressive body of data supporting the neurodevelopmental hypothesis of schizophrenia. This chapter summarizes the available clinical, neuroimaging, and genetic information regarding velo-cardio-facial syndrome (VCFS), so that it may be available for clinical research in schizophrenia. Developmental delays in the preschool period may result in identification of VCFS at that time, but some children with VCFS and adults whose condition was unrecognized in childhood are never identified, because of low clinical index of suspicion. Studies of the relationship between VCFS and schizophrenia have recently stimulated interest in further molecular genetic analysis of 22q11.2 site, utilizing both family- and population-based schizophrenia samples. A review of most of the available neuroimaging studies of children with VCFS suggests that there is an early alteration of parietal lobe and cerebellum, and that the decrease of temporal lobe gray matter and hippocampus can be observed only in adults.
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