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Updated: Oct 7, 2026
A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
Published on: February 4, 2022
Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of
T van Amelsvoort1, E Daly, D Robertson
1Department of Psychological Medicine, Institute of Psychiatry, London, UK. spjutva@iop.kcl.ac.uk
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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