Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study

D. Ivanov, G. Kirov, N. Norton, H. J. Williams, N. M. Williams, I. Nikolov, R. Tzwetkova, S. M. Stambolova, K. C. Murphy, D. Toncheva, A. Thapar, M. C. O'Donovan, M. J. Owen

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Background: Velo-cardio-facial syndrome (VCFS) is associated with interstitial deletions of chromosome 22q11. About 30% of patients with VCFS have psychosis, and the rate of these deletions in schizophrenia has been reported to be about 1%. Even higher rates of VCFS deletions have been reported for childhood-onset schizophrenia. Aims: To test the hypothesis that there is an increased rate of VCFS among patients with early-onset psychosis (age at onset < 18 years). We screened 192 early-onset patients and 329 patients with adult-onset schizophrenia. Method: We genotyped the patients and 444 healthy controls for hemizygosity of five microsatellite markers and one single nucleotide polymorphism that map to the 22q11-deleted region. Results: One patient had a VCFS deletion, confirmed with semi-quantitative polymerase chain reaction. None of the controls showed a pattern of genotypes consistent with hemizygosity. Conclusions: VCFS may be less frequent among patients with psychosis than previously suggested; this rate is not increased among early-onset patients.

Original languageEnglish (US)
Pages (from-to)409-413
Number of pages5
JournalBritish Journal of Psychiatry
Issue numberNOV.
StatePublished - Nov 2003

ASJC Scopus subject areas

  • Psychiatry and Mental health


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