title: Brain and behavior in 48, XXYY syndrome.
abstract: 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.
authors.affiliation: Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, USA.
authors.forename: Alli P
authors.initials: AP
authors.lastname: Hanley
authors.affiliation: Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, USA.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Blumenthal
authors.affiliation: Department of Psychology, Drexel University, Philadelphia, PA, USA.
authors.forename: Nancy Raitano
authors.initials: NR
authors.lastname: Lee
authors.affiliation: Department of Radiology and Imaging Sciences, Clinical Center, NIH, DHHS, USA.
authors.forename: Eva H
authors.initials: EH
authors.lastname: Baker
authors.affiliation: Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, USA.
authors.forename: Liv S
authors.initials: LS
authors.lastname: Clasen
authors.affiliation: Department of Psychiatry, University of California San Diego, USA.
authors.forename: Jay N
authors.initials: JN
authors.lastname: Giedd
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders; D006801:Humans; D007360:Intelligence / Q000502:physiology; D007713:Klinefelter Syndrome / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D000066553:Problem Behavior; D066107:Social Skills; D066127:White Matter / Q000473:pathology*; D055815:Young Adult
keywords: 48, XXYY; Brain anatomy; Sex chromosomes aneuploidy; White matter lesions