Velocardiofacial syndrome

Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert J. Shprintzen

Research output: Contribution to journalArticlepeer-review

Abstract

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the participants with VCFS develop schizophrenialike psychotic disorder, the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive, and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research.

Original languageEnglish
Pages (from-to)149-167
Number of pages19
JournalJournal of Mental Health Research in Intellectual Disabilities
Volume2
Issue number2
DOIs
StatePublished - 2009

Keywords

  • COMT
  • Chromosome 22
  • Microdeletion
  • Schizophrenia
  • Velocardiofacial syndrome

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