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Br J Psychiatry. 2001 May;178:412-9.

Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome.

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  • 1Department of Psychological Medicine, Institute of Psychiatry, London, UK. spjutva@iop.kcl.ac.uk

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.

PMID:
11331556
[PubMed - indexed for MEDLINE]
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