Article Title: Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile
Authors: A. Skakkebæk, C.H. Gravholt, P.M. Rasmussen, A. Bojesen, J.S. Jensen, J. Fedder, P. Laurberg, J.M. Hertz, J.R. Ostergaard, A.D. Pedersen, M. Wallentin
Date of Publication: October 29, 2013
“Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders. We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The results show that although gene dosage effect of having an extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities. No simple correspondence links these measures.”