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Yearly Archives: 2016

Home » Archives for 2016

Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study

Article Title: Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study

Authors: Anthony Swerdlow, Craig Higgins, Minouk Schoemaker, Alan Wright, and Patricia Jacobs

Date of Publication: December 1, 2005

“Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes. This may reflect hormonal and genetic mechanisms.”

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2018-10-16T11:04:45-04:00Categories: 47,XXY (Klinefelter)|

On Noninvasive Prenatal Screening

“ACMG Releases Updated Position Statement on Noninvasive Prenatal Screening (NIPS) for Detection of Fetal Aneuploidy”—The American College of Medical Genetics and Genomics (ACMG), released a new position statement on July 28, 2016 that expands upon its 2013 recommendations on the use of NIPS in prenatal care. “ACMG continues to stress that NIPS is a screening rather than a diagnostic test and positive results should be followed by a diagnostic test such as chorionic villus sampling or amniocentesis,” wrote the paper’s lead author. Click Here.

2017-07-14T21:59:25-04:00Categories: All Variations|

Sibling Support

Recommended Reading: Tips From Parents and Adults for the benefit of others

Note:  These are unofficial recommendations from parents who have found these books, articles, websites and other resources helpful in some way.  When possible, we will provide an link for ease of purchase, a link to the description of the book, and a link to a description of the author.  Unless otherwise stated, AXYS is not involved in the sale, and we recommend that you shop around before making your purchase.

2017-08-14T16:11:30-04:00Categories: All Variations|

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).”

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2022-03-15T13:38:47-04:00Categories: 47,XYY|Tags: |

Growing Up with XYY

Article Title: Unique – XYY

Authors: Unique – Rare Chromosome Disorder Support Group

Date of Publication: 2014

An article with general information about XYY Syndrome.

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.”

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2018-09-06T10:52:19-04:00Categories: 47,XYY|

Findings from an XYY Study

Article Title: XYY Study Day Report

Author: Unique – Rare Chromosome Disorder Support Group

Date of Publication: 2008

“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.”

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2018-09-12T09:46:47-04:00Categories: 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.”

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2017-08-14T16:30:50-04:00Categories: 47,XYY|

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

Article Title: 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

“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.”

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2018-09-10T14:13:48-04:00Categories: 47,XYY|
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