Document Detail

Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome.
MedLine Citation:
PMID:  11331556     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Velo-cardio-facial syndrome (VCFS) is associated with deletions in the qll band of chromosome 22, learning disability and psychosis, but the neurobiological basis is poorly understood. AIMS: To investigate brain anatomy in adults with VCFS. METHOD: Magnetic resonance imaging was used to study 10 patients with VCFS and 13 matched controls. We carried out three analyses: qualitative; traced regional brain volume; and measurement of grey and white matter volume. RESULTS: The subjects with VCFS had: a high prevalence of white matter hyperintensities and abnormalities of the septum pellucidum; a significantly smaller volume of cerebellum; and widespread differences in white matter bilaterally and regional specific differences in grey matter in the left cerebellum, insula, and frontal and right temporal lobes. CONCLUSIONS: Deletion at chromosome 22q11 is associated with brain abnormalities that are most likely neurodevelopmental and may partially explain the high prevalence of learning disability and psychiatric disorder in VCFS.
T van Amelsvoort; E Daly; D Robertson; J Suckling; V Ng; H Critchley; M J Owen; J Henry; K C Murphy; D G Murphy
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The British journal of psychiatry : the journal of mental science     Volume:  178     ISSN:  0007-1250     ISO Abbreviation:  Br J Psychiatry     Publication Date:  2001 May 
Date Detail:
Created Date:  2001-05-02     Completed Date:  2001-07-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0342367     Medline TA:  Br J Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  412-9     Citation Subset:  IM    
Department of Psychological Medicine, Institute of Psychiatry, London, UK.
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MeSH Terms
Brain / abnormalities*,  pathology
Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
Craniofacial Abnormalities / genetics*,  pathology,  psychology
Heart Defects, Congenital / genetics
Magnetic Resonance Imaging / methods
Mental Disorders / etiology
Comment In:
Br J Psychiatry. 2001 Dec;179:559   [PMID:  11731366 ]
Br J Psychiatry. 2001 Sep;179:270   [PMID:  11532813 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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