title: High rates of schizophrenia in adults with velo-cardio-facial syndrome.
abstract: BACKGROUND
  Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an increased frequency of schizophrenia and bipolar disorder, is associated with small interstitial deletions of chromosome 22q11.
  
  
  METHODS
  We evaluated 50 adults with VCFS using a structured clinical interview (Schedules for Clinical Assessment in Neuropsychiatry or Psychiatric Assessment Schedule for Adults With Developmental Disability if IQ <50) to establish a DSM-IV diagnosis. The schizophrenia phenotype in individuals with VCFS and schizophrenia was compared with a matched series of individuals with schizophrenia and without VCFS (n = 12). The King's Schizotypy Questionnaire was administered to individuals with VCFS (n = 41), their first-degree relatives (n = 68), and a series of unrelated normal controls (n = 316). All individuals with VCFS deleted for the N25 probe (n = 48) were genotyped for a genetic polymorphism in the COMT gene that results in variations in enzymatic activity.
  
  
  RESULTS
  Fifteen individuals with VCFS (30%) had a psychotic disorder, with 24% (n = 12) fulfilling DSM-IV criteria for schizophrenia. In addition, 6 (12%) had major depression without psychotic features. The individuals with schizophrenia had fewer negative symptoms and a relatively later age of onset compared with those with schizophrenia and without VCFS. We found no evidence that possession of the low-activity COMT allele was associated with schizophrenia in our sample of individuals with VCFS.
  
  
  CONCLUSIONS
  The high prevalence of schizophrenia in this group suggests that chromosome 22q11 might harbor a gene or genes relevant to the etiology of schizophrenia in the wider population.
authors.affiliation: Division of Psychological Medicine, University of Wales College of Medicine, Cardiff. k.murphy@iop.kcl.ac.uk
authors.forename: K C
authors.initials: KC
authors.lastname: Murphy
authors.forename: L A
authors.initials: LA
authors.lastname: Jones
authors.forename: M J
authors.initials: MJ
authors.lastname: Owen
mesh_terms: D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015897:Comorbidity; D004062:DiGeorge Syndrome / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence; D011569:Psychiatric Status Rating Scales; D011618:Psychotic Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D012559:Schizophrenia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D012565:Schizophrenic Psychology