Article Title: Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences
Authors: Jeannie Visootsak, Natalie Ayari, Susan Howell, Joash Lazarus, and Nicole Tartaglia
Date of Publication: January 15, 2013
Article Title: Clinical research: Extra X impairs awareness of others’ minds
Author: Kate Yandell
Date of Publication: June 13, 2014
“Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do, according to a study published 22 March in Genes, Brain and Behavior” (Sophie van Rijn et al).
Article Title: 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
Authors: Tartaglia, Ayari, Howell, D’Epagnier, Zeitler
Date of Publication: April 9, 2011
“Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features.”
Article Title: Brain and behavior in 48, XXYY syndrome
Authors: Alli P. Hanley, Jonathan D. Blumenthal, Nancy Raitano Lee, Eva H. Baker, Liv S. Clasen, Jay N. Giedd
Date of Publication: April 15, 2015
“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.”
Article Title: A New Look at XXYY Syndrome: Medical and Psychological Features
Authors: Nicole Tartaglia, Shanlee Davis, Alison Hench, Sheela Nimishakavi, Renee Beauregard, Ann Reynolds, Laura Fenton, Lindsey Albrecht, Judith Ross, Jeannie Visootsak, Robin Hansen, and Randi Hagerman
Date of Publication: March 2008
“XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.”
Article Title: Tremor in 48,XXYY Syndrome
Authors: Nicole Tartaglia, MD, Mariya Borodyanskya, BA and Deborah A. Hall, MD, PhD
Date of Publication: October 15, 2009
“The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or micro-orchidism.”
