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. 2003 Nov:183:409-13.
doi: 10.1192/bjp.183.5.409.

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

D Ivanov  1 , 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
Affiliations

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

D Ivanov et al. Br J Psychiatry. 2003 Nov.

Abstract

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.

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