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Chromosome 22qll deletions

An under-recognised cause of idiopathic learning disability

Published online by Cambridge University Press:  02 January 2018

K. C. Murphy ,
R. G. Jones ,
E. Griffiths ,
P. W. Thompson  and
M. J. Owen
K. C. Murphy*
Affiliation:
Division of Psychological Medicine, University of Wales College of Medicine, Cardiff
R. G. Jones
Affiliation:
Ely Hospital, Ely, Cardiff
E. Griffiths
Affiliation:
Ely Hospital, Ely, Cardiff
P. W. Thompson
Affiliation:
Division of Medical Genetics, University of Wales College of Medicine, Cardiff
M. J. Owen
Affiliation:
Divisions of Psychological Medicine and Medical Genetics, University of Wales College of Medicine, Cardiff
*
Dr K. Murphy. Neuropsychiatric Genetics Unit. Divisions of Psychological Medicines and Medical Genetics, Tenovus Building. Heath Park, Cardiff CF4 4XN. Tel: 01222 743058, Fax: 01222 747839, e-mail: MURPHYKC@CARDIFF.AC.UK
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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 22qll. We tested the hypothesis that VCFS may be significantly under-diagnosed by screening a learning-disabled population for chromosome 22qll 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 22qll 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 22qll deletion in people who meet selection criteria.

Type
Papers
Information
The British Journal of Psychiatry , Volume 172 , Issue 2 , February 1998 , pp. 180 - 183
Copyright
Copyright © 1998 The Royal College of Psychiatrists 

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