Chromosome 22qII deletions. An under-recognised cause of idiopathic learning disability

Murphy, K. C., Jones, R. G., Griffiths, E., Thompson, P. W. and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 1998. Chromosome 22qII deletions. An under-recognised cause of idiopathic learning disability. British Journal of Psychiatry 172 , pp. 180-183. 10.1192/bjp.172.2.180

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Abstract

BACKGROUND: Velo-cardio-facial syndrome (VCFS), a syndrome of multiple congenital abnormalities including characteristic dysmorphology, congenital heart defects and learning disability, is associated with small interstitial deletions of chromosome 22qII. We tested the hypothesis that VCFS may be significantly under-diagnosed by screening a learning disabled population for chromosome 22qII deletions. METHOD: Two hundred and sixty-five people with learning disability residing in two learning disability hospitals in South Wales were reviewed. They were selected for inclusion in the study if they fulfilled any of the following criteria: psychotic disorder (schizophrenia or affective disorder), family history of psychotic disorder, cleft palate and/or lip, congenital heart disease, broadly defined facial dysmorphism or a history of hypocalcaemia. Fluorescence in situ hybridisation studies were performed on 74 selected individuals. RESULTS: Cytogenetic analysis revealed that two people demonstrated a previously undetected chromosome 22qII deletion. A third person demonstrated a previously undetected cytogenetically visible deletion on chromosome 15. CONCLUSIONS: VCFS appears to be aetiologically significant in a proportion of individuals with idiopathic learning disability, especially in those where psychosis is associated with mild learning disability. We suggest that clinicians should consider a chromosome 22qII deletion in people who meet selection criteria.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Royal College of Psychiatrists
ISSN:	0007-1250
Last Modified:	31 Oct 2022 09:37
URI:	https://orca.cardiff.ac.uk/id/eprint/81748

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