Chromosome and Gene Abnormalities. It has an incidence of about male live births. Epub Apr
Fertil Steril. This procedure is done to see wether the patient has a presence of extra X chromosome. However, because of nondisjunction, an egg cell or a sperm cell can also end up with an extra copy of the X chromosome. Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome.
Children with Klinefelter syndrome may have low muscle tone hypotonia and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. The Merck Manual was first published in as a service to the community.
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From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The activity of these extra genes may disrupt many aspects of development, including sexual development before birth and at puberty, and are responsible for the common signs and symptoms of Klinefelter syndrome.
Epub Apr 8. It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. However, mental retardation is not a stable clinical feature of Klinefelter syndrome. Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome.
In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed.
Klinefelter syndrome: clinical and molecular aspects. Once the mutation is located, a better tool could be developed to test animals suspected of having the condition. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading.