Library - Page 20 of 34 - The Association for X and Y Chromosome Variations

A Klinefelter Update for Pediatricians

“Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome”—This nearly 30-page story in the journal Advances in Pediatrics is directed at pediatricians and family physicians who treat children, and who may thus come across patients with Klinefelter syndrome. It alerts them to the risks the condition carries for neurodevelopmental and psychological complications, and suggests that diagnosis rates are likely to spike sharply upward given advances in genetics and prenatal neonatal screening. Click here.

Rick Frith2018-04-27T16:40:23-04:00Categories: Featured Research Articles|

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.

Rick Frith2018-04-27T16:40:32-04:00Categories: 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.

Rick Frith2025-02-20T14:54:05-05:00Categories: Featured Research Articles|

A Guide to Special Education Services in Texas

Title: IDEA – The Manual for Parents and Students About Special Education Services in Texas

Date of Publication: September 2011

Rick Frith2022-03-15T13:38:55-04:00Categories: All Variations|Tags: Education, IEP|

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.”

Rick Frith2018-10-16T11:04:45-04:00Categories: 47,XXY (Klinefelter)|

Sex Chromosome Variations (Article from Exceptional Parent Magazine)

This is an article written by AXYS board member Ginnie Isaacs Cover, MSW, MBA for the July 2017 issue of Exceptional Parent magazine. It provides some general information on sex chromosome variations and highlights certain challenges parents can face in getting the appropriate care and assistance for their child.

Read the article in PDF format

Rick Frith2017-07-16T15:27:37-04:00Categories: All Variations|

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

Rules (2006) by Cynthia Lord, a book for “sisters”
More about the book
About the Author
Being the Other One: Growing Up with a Brother or Sister Who Has Special Needs (2005) by Kate Strohm, a book for parents and siblings
More about the book
About the Author

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.

Rick Frith2017-08-14T16:11:30-04:00Categories: 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).”

Rick Frith2022-03-15T13:38:47-04:00Categories: 47,XYY|Tags: Education|

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.”

Rick Frith2018-09-06T10:52:19-04:00Categories: 47,XYY|