Living with Klinefelter Syndrome (47, Xxy) Trisomy X (47, XXX) and 47, Xyy: A Guide for Families and Individuals Affected by X and y Chromosome Variat

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. Often referred to as "hidden" disabilities, X and Y chromosome variations are the most common of the chromosome aneuploid conditions that may affect humans. Ordinarily, all human cells have 46 chromosomes, 22 pairs of autosomes, and a pair of sex chromosomes in a female. Any variation in number of sex chromosomes will lead to a condition of sex chromosome aneuploidy. X and Y chromosome variations affect an estimated 1 in 500 persons. The result is highly variable from one individual to the next. Affected persons may be symptom-free, but more often will have symptoms including low muscle tone, speech delay, lowered fertility, learning disabilities, ADHD, and even autism spectrum disorders. Yet the public and many health and education professionals remain unfamiliar with the syndromes and their range of functioning, leading to missed diagnoses and lack of appropriate treatment.