This comprehensive guide to X and Y chromosome aneuploidy is written in lay language for affected individuals and their families, providing an authoritative volume that explains X and Y chromosome variations in clear and accurate terms. These surprisingly common genetic conditions, affecting 1 in 500 individuals, include Klinefelter syndrome, Trisomy X and 47,XYY. This guide provides a lifespan approach to the three trisomy conditions, as well as their less common variations involving 48 and 49 chromosomes. Readers are provided clear explanations of the genetics involved, diagnosis and disclosure issues, development from infancy through early adulthood, potential health and fertility concerns, and educational and psychosocial considerations. The text is illustrated with actual quotations from those who live with the disorders, and provides not only descriptions of potential concerns, but also strategies for successfully addressing the challenges that may develop. Written by an experienced social worker in the field of developmental disabilities, who is also the mother of a young adult with 47,XXY, the book is an invaluable resource for families as well as for the professionals who work with these children and adults. The material on which the book is based includes a survey of over 800 adults and families who live with sex chromosome aneuploidy, as well as the most recent professional articles available summarizing research into the genetic mechanism of the disorder, characteristics of the population of each condition, co-morbid medical issues, and current treatment recommendations. The guide dispels myths that have been associated with these poorly understood disorders, including their association with mental disability and criminal behavior. It provides families and persons facing the diagnosis of one or more extra X or Y chromosomes excellent reason to expect a fulfilling and rich life, as well as detailed and practical information to use in obtaining state-of-the-art medical care and appropriate educational and social services.
|Living With My X: The true story of one man and a rogue chromosome|
by Mr Stephen Malherbe (Author)
The True Story of One Man and a Rogue Chromosome. Between 1 in 500 and 1 in 1 000 men are born with an ‘extra’ X chromosome. The symptoms associated with this vary widely. Although many men remain entirely unaware of their additional X chromosome, and few boys who have it go on to develop Klinefelter’s syndrome, Stephen was one of those who did. The symptoms associated with this vary widely, but can include small testicles, resulting in sterility; the enlargement of the breasts; low...
|Gregory and his Extra X|
by Arlie Colvin (Author)
Gregory and his Extra X is a children’s book for kids with XXY (Klinefelter syndrome). This book helps children and adolescents with XXY understand their condition. The story follows Gregory, a young boy with XXY, through his busy day as he attends school, goes to golf practice and has a doctor’s appointment. The story explores the genetics of XXY and addresses social, academic and medical aspects of this condition in an age-appropriate, fun way. Though Gregory’s condition presents him...
|Jack and his Extra Y|
by Arlie Colvin (Author)
Jack and his Extra Y is a children’s book for kids with 47, XYY. This book helps children and adolescents with XYY understand their condition. The story follows Jack, a young boy with XYY, through his busy day as he attends school, goes to golf practice and has a doctor’s appointment. The story explores the genetics of XYY and addresses social, academic and medical aspects of this condition in an age-appropriate, fun way. Though Jack’s condition presents him with many challenges...
|Elizabeth and her Extra X|
by Arlie Colvin (Author)
Elizabeth and her Extra X is a children’s book for kids with Triple X or Trisomy X syndrome (47, XXX). This book helps children and adolescents with Triple X understand their condition. The story follows Elizabeth, a young girl with Triple X, through her busy day as she attends school, goes to golf practice and has a doctor’s appointment. The story explores the genetics of Triple X and addresses social, academic and medical aspects of this condition in an age-appropriate, fun way. Though...
|Klinefelter Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers|
by Philip M. Parker (Author)
In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Klinefelter syndrome is indexed in...