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Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function ovarian hypofunction or premature ovarian failure is also very common. The ovaries develop normally at first, but egg cells oocytes usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive infertile. A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.
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Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child infertile because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck webbed neck , puffiness or swelling lymphedema of the hands and feet, skeletal abnormalities, heart defects and kidney problems. This condition occurs in about 1 in 2, female births worldwide, but is much more common among pregnancies that do not survive to term miscarriages and stillbirths. Turner syndrome is a chromosomal condition related to the X chromosome. Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth.
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Angelman syndrome AS is a genetic disorder that mainly affects the nervous system. Angelman syndrome is typically due to a new mutation rather than one inherited from a person's parents. No cure is available. AS affects 1 in 12, to 20, people. The following text lists signs and symptoms of Angelman syndrome and their relative frequency in affected individuals.
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