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Library

The Triple X Syndrome Phenotype

“Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis” —This cross-sectional study was published in the American Journal of Medical Genetics. It describes the diagnosis, physical aspects, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Click here.

2018-04-27T16:40:32-04:00Categories: Featured Research Articles|

Exploring Klinefelter Syndrome

“The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults” — This research article examines the medical, psychological, and social challenges that arise in individuals with 47,XXY as well as providing practical recommendations for parents and professionals on how to meet these challenges. Click here.

2025-02-20T14:54:05-05:00Categories: Featured Research Articles|

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 Amazon.com 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|
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