Library

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22 11, 2016

Exploring Klinefelter Syndrome

November 22nd, 2016|

"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.

31 10, 2016

Expanding the Triple X Phenotype

October 31st, 2016|

"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.

31 10, 2016

A Klinefelter Update for Pediatricians

October 31st, 2016|

"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 [...]

31 10, 2016

The Challenges of Klinefelter’s

October 31st, 2016|

"The Klinefelter Syndrome: Current Management and Research Challenges"—From the scientific journal, Andrology, this article summarizes the concluding “Round Table Discussion” of the 2nd International Workshop on the Klinefelter Syndrome in Munster, Germany, March, 2016. Topics include syndrome characteristics, centers of competence for diagnosis and treatment, counseling, support groups, early screening, fertility, testosterone treatment, and basic [...]

31 10, 2016

On Noninvasive Prenatal Screening

October 31st, 2016|

"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 [...]

31 10, 2016

Guide to Trisomy X

October 31st, 2016|

Kathleen Erskine, a graduate student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College conducted a study to identify the important aspects of 47, XXX/ 3X/ Triple X/ Trisomy X to discuss with girls when they first learn about their Trisomy X diagnosis. The end result of this study is [...]

31 10, 2016

Sibling Support

October 31st, 2016|

Recommended Reading: Tips From Parents and Adults for the benefit of others Rules 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 by Kate Strohm, a book for parents and siblings More about the book [...]

30 10, 2016

Parents Advocate for Son’s Educational Needs

October 30th, 2016|

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 [...]

30 10, 2016

Growing Up with XYY

October 30th, 2016|

An article with general information about XYY Syndrome. Read the entire article. 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 [...]

30 10, 2016

Findings from an XYY Study

October 30th, 2016|

Read the entire article. 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 [...]