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

Background Velo-cardio-facial syndrome (VCFS) is associated with deletions in the pi I band of chromosome 22, learning disability and psychosis, but t he 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 a nd 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 hyper intensities and abnormalities of the septum pellucidum; a significantly sma ller volume of cerebellum; and widespread differences in white matter bilat erally and regional specific differences in grey matter in the left cerebel lum insula, and frontal and right temporal lobes. Conclusions Deletion at chromosome 22qll is associated with brain abnormali ties that are most likely neurodevelopmental tal and may partially explain the high prevalence of learning disability and psychiatric disorder in VCFS . Declaration of interest This study was funded partially by the-Theodore and Vada Stanley Foundation and the Medical Research Council.