Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics

Am J Med Genet. 1994 Jun 15;54(2):107-12. doi: 10.1002/ajmg.1320540205.


Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients--one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS--are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / psychology*
  • Adult
  • Chromosomes, Human, Pair 22
  • Face / abnormalities
  • Female
  • Genetics, Behavioral
  • Heart Defects, Congenital / genetics
  • Humans
  • Male
  • Psychotic Disorders / complications*
  • Psychotic Disorders / genetics
  • Syndrome