The velocardiofacial syndrome in psychiatry

Velocardiofacial syndrome (VCFS) is a genetic disability syndrome that is c aused, in most cases, by a de-novo 3 Mb microdeletion at chromosome region 22q11.2. The behavioral phenotype includes characteristic developmental, co gnitive, and linguistic deficits, and psychiatric disorders, including chil dhood abnormalities of attention, mood, and anxiety. Recently, it was estab lished that approximately 30% of people with VCFS develop schizophrenia, es tablishing VCFS as the first known genetic cause of schizophrenia. There ha s been recent progress in describing the molecular biology of the deletion site, characterizing the behavioral phenotype, and in defining the structur al brain abnormalities in VCFS. However, numerous knowledge gaps remain in tracing the pathways from gene expression to brain structure, and to cognit ive and psychiatric symptoms. Curr Opin Psychiatry 13:485-490; (C) 2000 Lip pincott Williams & Wilkins.