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Brain and behavior in 48, XXYY syndrome
Journal article   Open access   Peer reviewed

Brain and behavior in 48, XXYY syndrome

Alli P. Hanley, Jonathan D. Blumenthal, Nancy Raitano Lee, Eva H. Baker, Liv S. Clasen and Jay N. Giedd
NeuroImage clinical, v 8(C), pp 133-139
15 Apr 2015
PMID: 26106537
url
https://doi.org/10.1016/j.nicl.2015.04.009View
Published, Version of Record (VoR)CC BY-NC-ND V4.0 Open

Abstract

48, XXYY Brain anatomy Regular Sex chromosomes aneuploidy White matter lesions
The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p  ≤ 0.001), white matter lesions (25% vs. 5%, p  = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p  = 0.001). The specificity of these findings may shed light on the role of the X and Y chromosomes in typical and atypical brain development and help provide direction for future studies of brain–behavior relationships in males with XXYY syndrome. • GM and WM of the frontal and temporal lobe are smaller. • GM and WM of the parietal lobe, as well as lateral ventricular volumes are larger. • Colpocephaly, WM lesions and abnormalities of the corpus callosum were increased.

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Collaboration types
Domestic collaboration
Web of Science research areas
Neuroimaging
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