Neuroimaging in velo-cardio-facial syndrome

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Abstract
This chapter discusses the currently available neuroimaging literature in people with velo-cardio-facial syndrome (VCFS), and explains how this contributes to our understanding of the neurobiology of schizophrenia in the general population. Several publications have investigated quantitative volumetric changes in VCFS children and adolescents. Structural alteration of the cerebellum in children and adolescents with VCFS was congruent with several qualitative studies reporting reduction in posterior fossa, cerebellum, or vermis. Using cross-sectional data analysis, changes of temporal and mesio-temporal lobe structures in individuals with VCFS compared with typically developing subjects were investigated. Imprinting is a genetic mechanism in which gene expression is modulated by the parental origin of the chromosome on which the gene is located. Research on imprinting has shown that parental origin of a genomic deletion can affect the physical and cognitive phenotype of individuals with the genetic disorder.