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3 results

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

  • Therese Van Amelsvoort, Eileen Daly, Dene Robertson, John Suckling, Virginia Ng, Hugo Critchley, Michael J. Owen, Jayne Henry, Kieran C. Murphy, Declan G. M. Murphy
  • Journal: The British Journal of Psychiatry / Volume 178 / Issue 5 / May 2001
  • Published online by Cambridge University Press: 02 January 2018, pp. 412-419
  • Print publication: May 2001
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  • Background

    Velo-cardio-facial syndrome (VCFS) is associated with deletions in the q11 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.