It is a genetic disorder standing for the acronym cardiac abnormalities, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, which are its defining phenotypical features. Including the DiGeorge syndrome and more commonly referred to as the velocardio-facial or Shprintzen syndrome, it is associated with a specific abnormality or microdeletion on the long arm of chromosome 22. It occurs in about 1 in 700 births, thus making it one of the most common genetic disorders in humans probably due the fact it covers a number of similar syndromes, and has a 50% chance of resulting in mental retardation. It also associated with major psychoses, but particularly schizophrenia. The 22q11-dependent abnormalities are thought to engender dysfunctioning of the limbic system and to interfere with the interhemipheric exchange of information, thereby predisposing individuals to the syndrome.
See Behavior phenotype syndromes, Corpus callosum, Limbic system, Reelin