Structural brain abnormalities associated with deletion at chromosome 22q11

van Amelsvoort, T., Daly, E., Robertson, D., Suckling, J., Ng, V., Critchley, H., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Henry, J., Murphy, K. C. and Murphy, D. G. 2001. Structural brain abnormalities associated with deletion at chromosome 22q11. British Journal of Psychiatry (178) , pp. 412-419. 10.1192/bjp.178.5.412

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Royal College of Psychiatrists
ISSN:	0007-1250
Last Modified:	31 Oct 2022 09:23
URI:	https://orca.cardiff.ac.uk/id/eprint/80822

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