Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language.
Klinefelter (47,XXY) syndrome (KS), the most common form of sex-chromosomal aneuploidy, is characterized by physical, endocrinologic, and reproductive abnormalities. Individuals with KS also exhibit a cognitive/behavioral phenotype characterized by language and language-based learning disabilities and executive and attentional dysfunction in the setting of normal general intelligence. The underlying neurobiologic mechanisms are just now beginning to be elucidated through structural and functional neuroimaging. Here, we review the literature of structural and functional neural findings in KS identified by neuroimaging and present preliminary results from a functional magnetic resonance imaging study examining brain activity during a verb generation task in KS.
Steinman
Kyle
K
Division of Child Neurology, Department of Neurology, University of California-San Francisco, 350 Parnassus Ave, Suite 609, San Francisco, CA 94117, USA. steinman@neuropeds.ucsf.edu
Ross
Judith
J
Lai
Song
S
Reiss
Allan
A
Hoeft
Fumiko
F
D001921:Brain / Q000033:anatomy & histology*; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D007806:Language Disorders / Q000175:diagnosis / Q000453:epidemiology*; D007859:Learning Disabilities / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D014706:Verbal Learning