Authors: Jean-Francois Lepage, David S. Hong, Mira Raman, Matthew Marzelli, David P.
Roeltgen, Song Lai, Judith Ross, and Allan L. Reiss.
Date of Publication: February 2014
From the abstract:
“The neurocognitive and behavioral profile of individuals with 47,XYY is increasingly
documented; however, very little is known about the effect of a supernumerary Y-chromosome on
brain development. Establishing the neural phenotype associated with 47,XYY may prove
valuable in clarifying the role of Y-chromosome gene dosage effects, a potential factor in several
neuropsychiatric disorders that show a prevalence bias towards males, including autism spectrum
disorders. Here, we investigated brain structure in 10 young boys with 47,XYY and 10 agematched
healthy controls by combining voxel-based morphometry (VBM) and surface-based
morphometry (SBM). VBM results show the existence of altered grey matter volume in the insular
and parietal regions of 47,XYY relative to controls, changes that were paralleled by extensive
modifications in white matter bilaterally in the frontal and superior parietal lobes. SBM analyses
corroborated these findings and revealed the presence of abnormal surface area and cortical
thinning in regions with abnormal grey matter and white matter volumes. Overall, these
preliminary results demonstrate a significant impact of a supernumerary Y-chromosome on brain
development, provide a neural basis for the motor, speech, and behavior regulation difficulties
associated with 47,XYY, and may relate to sexual dimorphism in these areas.”
Title: An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome
Authors: Judith L. Ross, Martha P.D. Zeger, Harvey Kushner, Andrew R. Zinn, and David P. Roeltgen
Date of Publication: December 2009
A research article on comparing the similarities and differences in boys with 47,XXY and 47,XYY from a neurocognitive testing standpoint.
Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
Authors: Nicole R. Tartaglia, MD; Natalie Ayari, BA; Christa Hutaff-Lee, PhD; Richard Boada, PhD
Date of Publication: May 2012
Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).
Article Title: Unique – XYY
Authors: Unique – Rare Chromosome Disorder Support Group
Date of Publication: 2006
“Approximately 1 boy in 1000 has XYY chromosomes. In the cells of their body, instead of 46 chromosomes including one X and one Y chromosome, they have one X and two Y chromosomes, making 47 in all. The impact of the extra Y chromosome is extremely variable. The great majority of boys and men with an extra Y chromosome are never aware of it, because they do not have symptoms that lead to a diagnosis. Only a small fraction of boys and men with XYY are ever diagnosed: recent estimates suggest 2.5% in the United Kingdom and 20% in Denmark.