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Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients by G.J. Wiehahn; G.P. Bosch; R.R. du Preez; H.W. Pretorius; M. Karayiorgou; J.L. Roos is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients about?

A hemizygous deletion of the q11 band on chromosome 22 occurs in 1 of every 5,950 live births (0.017%). The deletion is mediated by low copy repeats (LCRs) flanking this locus. Presence of the deletion is associated with variable phenotypic expression, which can include distinctive facial dysmorphologies, congenital heart disease and learning disabilities. An unusually high percentage of individuals with this deletion (25-30%) have been described to develop schizophrenia or schizoaffective disorder. In previous studies, the prevalence of the 22q11 deletion in patients with schizophrenia was found to be approximately 2% in Caucasian adults and 6% in childhood-onset cases. Both these frequencies represent a dramatic increase from the prevalence of the deletion in the general population. In this study, we investigate the occurrence of the 22q11 deletion in an independent sample of schizophrenic patients of Afrikaner origin. We first ascertained a sample of 85 patients who meet full diagnostic criteria for schizophrenia for presence of two or more of the clinical features associated with presence of the 22q11 deletion. A group of six patients (7%) met these criteria. This group was sub

Who reads Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients?

Author

G.J. Wiehahn; G.P. Bosch; R.R. du Preez; H.W. Pretorius; M. Karayiorgou; J.L. Roos

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

2004

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)