Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) …
2012年10月12日 · This comprehensive guide to X and Y chromosome aneuploidy is written in lay language, providing an authoritative volume that explains X and Y chromosome variations in clear, accurate terms. These surprisingly common genetic conditions, affecting 1 in 500 individuals, include Klinefelter syndrome, Trisomy X and 47,XYY.
- 4.5/5(26)
Living with Klinefelter Syndrome, Trisomy X, and 47,XYY: A guide …
2012年3月1日 · This is simply an outstanding book for anyone dealing with XXY, XYY or Triple X. Excellent explanations, very thorough presentation of possible challenges and recommendations for finding resources and support.
- 4.8/5(38)
What is Klinefelter Syndrome? And How To Manage Life with XXY
2025年1月18日 · In this book, you will discover: An in-depth explanation of Klinefelter syndrome (XXY): Learn about its genetic causes, symptoms, and impact on physical, cognitive, and emotional health. Understand how the extra X chromosome affects development and how it differs from other genetic conditions.
染色体病科普之克氏综合征（47,XXY） - 知乎专栏
由于克氏综合征患者（47，XXY）比正常的男性（46，XY）多了一条X染色体，是一种先天性疾病，曾经被大多数医生认为没有治疗价值，不可能获得自己的亲生孩子，然而，随着显微取精手术的出现，这种观点发生了翻天覆地的改变。 如果克氏征患者通过显微取精手术能够取得精子，那么就有可能通过 辅助生殖技术 生育自己的孩子。 另外，部分克氏综合征的患者在青春期早期是会自行排精的，如能早期确认克氏综合征，对这部分患者采取自精冻存，对将来的生育是一道强有力 …
47,XXY, also known as Klinefelter syndrome, is the name of something called a genetic condition. In Klinefelter syndrome, which is easier to say as “KS”, a boy has an extra “X message” in each cell of his body. XXY is common. One boy out of every 600 boys has XXY. If you were in a big school, with 1200 students,
一位克氏综合症病人的亲身经历 - 知乎 - 知乎专栏
若在减数分裂中精母与卵母细胞的性染色体未分离，受精后形成的合子就会有额外的X染色体，形成XXY，此额外的X染色体，可来自卵子或精子。 此外受精卵在卵裂过程中X不分离，也可出现额外的X染色体。 患者在儿童期多无异常，青春期及成年后逐渐出现异常表现，病人睾丸很小，约半数左右乳房呈女性发育，男性第二性征发育异常，身材较高，四肢细长，肩部较窄， 骨盆类似女性，皮下脂肪多，肌肉不发达，有肥胖倾向，声音尖细，多无喉结，胡须及体毛不明显或稀疏， …
Books - The Association for X and Y Chromosome Variations
Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome. Thanks to the generosity of the book’s author, Virginia Isaac’s Cover, MSW, AXYS is pleased to make this book available to the X and Y variation community, in its entirety, at no cost. Please ...
The Focus Foundation - X & Y Chromosomal Disorders
Dr. Carole Samango-Sprouse and Dr. Andrea Gropman, have published a book presenting the latest in research and clinical care and addressing neurodevelopment in children with X and Y Chromosomal Variations. Now stocked in more than 200 medical institutions across the country, this popular book is now available in paperback!
Klinefelter Syndrome - StatPearls - NCBI Bookshelf
2023年11月12日 · The syndrome describes males with tall stature, small testes, gynecomastia, and azoospermia. The precise genetic etiology of supernumerary X chromosomes (47,XXY) was identified in 1959. Extra X chromosomes lead to testicular hyalinization, fibrosis, and hypofunction, resulting in genital abnormalities, usually hypogonadism, and infertility.
What You Need to Know When You are Expecting or Have a New …
2024年11月26日 · Families with a new diagnosis of XXY––also known as Klinefelter syndrome––may experience a rollercoaster of emotions from worry and uncertainty to hope and excitement. This book serves as an educational resource to introduce families to XXY and foster an understanding of what a diagnosis of XXY may mean for their child and their family.