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

Ivanov, Dobril ORCID:, Kirov, George ORCID:, Norton, Nadine ORCID:, Williams, Hywel John ORCID:, Williams, Nigel Melville ORCID:, Nikolov, Ivan, Tzwetkova, R., Stambolova, S. M., Murphy, Kieran Christopher, Toncheva, Draga, Thapar, Anita ORCID:, O'Donovan, Michael Conlon ORCID: and Owen, Michael John ORCID: 2003. Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study. The British Journal of Psychiatry 183 (5) , pp. 409-413. 10.1192/bjp.183.5.409

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Royal College of Psychiatrists
ISSN: 0007-1250
Date of Acceptance: 1 July 2003
Last Modified: 01 Dec 2022 09:47

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