New Guide Released on X and Y Chromosome Variations

In the 1980s at age 37, Virginia Isaacs Cover became pregnant with her second son. Amniocentesis revealed a prenatal diagnosis of Klinefelter Syndrome. Cover and her husband had the best genetic counseling available at the time as well as access to copies of available research studies from the Stony Brook University’s medical library. She made it her goal to develop a comprehensive guide to sex chromosome aneuploidy to ease the challenges of gaining accurate information about these genetic conditions. The author has distilled two decades of experience and study into an authoritative guide for families and individuals affected by X and Y chromosome variations.

Ms. Cover draws on her years of experience as a parent, as an advocate, and as a social worker involved with children and adults with developmental disabilities, to research psychosocial and medical issues affecting this population.  This guide provides a lifespan approach to the three trisomy conditions, Klinefelter Syndrome, Trisomy X, and 47,XYY Syndrome, as well as their less common Tetrasomy and Pentasomy variations. Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY provides clear explanations of the genetics involved in the conditions, diagnosis and disclosure, development from infancy through early adulthood, potential health and fertility issues, and educational and psychosocial considerations.

The Table of Contents of the 200 page guide includes:

• An overview of the genetics and symptoms of sex chromosome aneuploidy
• Descriptions of the trisomy aneuploid conditions and their variations
• Klinefelter Syndrome (47,XXY) and Variations  (48,XXYY; 48,XXXY; 49,XXXXY)
• 47,XYY
• Trisomy X (47,XXX) and Tetrasomy and Pentasomy X (48,XXXX and 49,XXXXX)
• Educational Recommendations
• Psychosocial Considerations
• Transitioning from School to Adulthood
• What’s Next?

The guide is useful for individuals affected by extra X and Y chromosomes, as well as for teachers, counselors, social workers and health care and social services professionals working with this population.  It is written in lay language but bases its contents and recommendations on published literature as well as a survey of over 800 individuals and parents done by the author in researching this book.

Although KS&A has helped with publicizing the survey used in research for the guide and is listing it in the store on www.genetic.org, it is not a publication of the organization.  A donation to KS&A will be made by the author for each book sold through the website.

The book is available for $16 plus $4 shipping and handling for mail to the continental U.S. by ordering here.  Other shipping rates are detailed in the Specifications section of this page.  International shipment is possible as is priority mail shipment.  E-books will be available in the near future for those who do not want to pay for shipment of a hard-copy.  Information will be available on this site regarding ordering of e-books from another vendor.