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

Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Nikolov, Ivan, Tzwetkova, R., Stambolova, S. M., Murphy, Kieran Christopher, Toncheva, Draga, Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 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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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine 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 Mar 2024 07:37
URI:	https://orca.cardiff.ac.uk/id/eprint/580

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