47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Article Title: 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Authors: Martha Zeger Bardsley, Karen Kowal, Carly Levy, Ania Gosek, Natalie Ayari, Nicole Tartaglia, Najiba Lahlou, Breanna Winder, Shannon Grimes, and Judith L. Ross

Date of Publication: May 2013

“The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.”

Read more

2018-07-31T12:54:17+00:00Categories: 47,XYY|

Parents Advocate for Son’s Educational Needs

Date of Publication: May 2017

A couple in the U.K. are fighting to help their son with 47,XYY get what he needs to be successful in school. From the original article:

“Holly Mayatt, of Sandown Road, said her son Harry, who attends All Saints Junior Academy, is struggling more and more at school due to him not being given specialist provision which she has asked for.

Harry has XYY syndrome, a rare chromosomal disorder. Symptoms may include learning disabilities and behavioural problems such as impulsivity. He also has SPD (sensory processing disorder).”

Read more



2017-08-25T21:01:25+00:00Categories: 47,XYY|

Growing Up with XYY

An article with general information about XYY Syndrome.

Date of Publication: 2014

An excerpt:

“Approximately one 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.”

Read more



2017-08-25T21:02:19+00:00Categories: 47,XYY|

Findings from an XYY Study

XYY Study Day Report

Date of Publication: 2008

From the introduction:

“Families with a son with XYY – a single extra Y chromosome – met experts and
researchers at a study day in Oxford, UK in April 2008. They heard what is already
known from research conducted on boys and men with XYY who were identified in
the 1960s and what is starting to emerge from a follow-up study of the development
of children with an extra sex chromosome, launched last summer in the UK.
This study will refine and update knowledge about boys and girls aged between 4
and 16 with Triple X, XYY and XXY (Klinefelter syndrome), and in particular what
is known about their behaviour and learning.”

Read more



2018-07-09T17:00:33+00:00Categories: 47,XYY|

Brain Morphology in Children with 47,XYY Syndrome: A Voxel and Surface-based Morphomeric Study

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.”

Read more


2017-08-14T16:30:50+00:00Categories: 47,XYY|

Sex Chromosomes and the Brain: A Study of Neuroanatomy in XYY Syndrome

Authors: Daniel M Bryant, Fumiko Hoeft, Song Lai, John Lackey, David Roeltgen, Judith Ross, and Allan L Reiss.

Date of Publication: December 2012

From the abstract:

AIM—To assess global and regional brain matter variations associated with XYY syndrome by comparison with Klinefelter syndrome and typical development.
METHOD—We used two conceptually distinct voxel-based magnetic resonance imaging methods to examine brain structure in young males with XYY syndrome: (1) volumetric comparison to assess global grey and white matter volumes and (2) support vector machine-based multivariate pattern classification analysis to assess regional neuroanatomy. We assessed verbal, non-verbal, and spatial abilities with the Differential Ability Scales (DAS), and we measured autism diagnostic criteria in eight males with XYY syndrome using the Social Responsiveness Scale and the Autism Diagnostic Interview-Revised (ADI-R).
RESULTS—A comparison of 36 typically developing males (mean age 11y, SD 1y 9mo), 31 males with Klinefelter syndrome (mean age 9y 8mo, SD 1y 8mo), and eight males with XYY syndrome (mean age 11y 6mo, SD 1y 11mo) showed that total white and grey matter volumes were significantly, or nearly significantly, higher in males with XYY syndrome than in males belonging to the other two groups (grey matter: XYY males vs typically developing males, p<0.006; XYY vs males with Klinefelter syndrome, p<0.001; white matter: XYY males vs typically developing males, p=0.061; XYY males vs males with Klinefelter syndrome, p=0.004). Voxel-based multivariate pattern classification analysis indicates that, after controlling for global volumes, regional brain variations in XYY syndrome are more like those found in Klinefelter syndrome than those occurring in typical development. Further, visualization of classification parameters suggests that insular and frontotemporal grey matter and white matter, including known language areas, are reduced in males with XYY syndrome, similar to what is seen in Klinefelter syndrome. In males with XYY syndrome, DAS verbal and non-verbal scores were significantly lower than in typically developing participants (both p<0.001). DAS scores were not significantly different between XYY and Klinefelter syndrome groups. In five of eight males with XYY syndrome, the Social Responsiveness Scale score exceeded the cut-off for a likely diagnosis of autism spectrum disorder (ASD). In three of eight males with XYY syndrome, the ADI-R score met the cut-off for ASD diagnosis; in another two, ADI-R scores within the social and communication domains met the cut-off values for a diagnosis of ASD.
INTERPRETATION—The results suggest that genetic variations associated with XYY syndrome result in increased brain matter volumes, a finding putatively related to the increased frequency of ASDs in individuals with this condition. In addition, frontotemporal grey and white matter reductions in XYY syndrome provide a likely neuroanatomical correlate for observed language impairments.”

Read more

2017-08-14T16:36:31+00:00Categories: 47,XYY|

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

This is a scholarly article by Judith L. Ross, Martha P.D. Zeger, Harvey Kushner, Andrew R. Zinn, and David P. Roeltgen.

Date of Publication: 2009

From the abstract:

Objective—The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype (Klinefelter syndrome, KS), who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes.
Methods—Neuropsychological evaluation of general cognitive ability, language, memory,
attention, visual-spatial abilities, visual-motor skills, and motor function.
Results—Study cohort: 21 boys with 47,XYY and 93 boys with 47,XXY (KS), ages 4-17 years, and 36 age-matched control boys. Both the XYY and KS groups performed less well, on average, than the controls on tests of general cognitive ability, achievement, language, verbal memory, some aspects of attention and executive function, and motor function. The boys with XYY on average had more severe and pervasive language impairment, at both simple and complex levels, and the boys with KS on average had greater motor impairment in gross motor function and coordination, especially in running speed and agility.
Conclusions—The results from these large XYY and KS cohorts have important neurocognitive and educational implications. From the neurocognitive standpoint, the presenting findings afford an opportunity to gain insights into brain development in boys with XYY and those with KS. From the educational standpoint, it is critical that boys with XYY or KS receive appropriate educational interventions that target their specific learning challenges. These findings also provide important information for counseling clinicians and families about these disorders.”

Read more

2017-11-22T14:21:34+00:00Categories: 47,XXY (Klinefelter), 47,XYY|