© 2001 The Royal College of Psychiatrists
Structural brain abnormalities associated with deletion at chromosome 22q11
Quantitative neuroimaging study of adults with velo-cardio-facial syndrome*
Department of Psychological Medicine, Institute of Psychiatry, London
Correspondence: Therese van Amelsvoort, Department of Psychological Medicine, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK. Tel: 020 7848 0785; Fax: 020 7848 0650; e-mail: spjutva{at}iop.kcl.ac.uk
Declaration of interest This study was funded partially by the Theodore and Vada Stanley Foundation and the Medical Research Council.
* Preliminary data were presented at the Annual Meeting of the Society for Biological Psychiatry,Washington,DC, 13-15 May 1999.
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.
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