Turner'S Snydrome

987 Words4 Pages
In 1938, Dr. Henry Turner studied seven young girls in his office, later to diagnose them all with a disease now named after him, Turner’s Syndrome. Such a rare disease, affecting every 1 in 2,500 girls, [as of January 2005], can be diagnosed while the child is still surrounded by amniotic fluid in the womb, but can never be ‘cured’. Turner’s Syndrome, also referred to as XO Syndrome or TS, is a genetic disorder. Since TS is the lack or incompletion of a complete X chromosome, TS is only found in women, and is responsible for 10% of miscarriages. Turner’s Syndrome is a chromosomal error, which can be revealed with a test called a karyotype. A karyotype is normally taken with cells from the amniotic fluid while the child is still in the womb. It can be taken anytime of a woman’s life if signs such as a webbed neck or lymphedema, heart problems, delay of puberty and infertility, or menstrual irregularities are present. If a child or woman does indeed have TS, the karyotype will reveal that there are only 45 chromosomes [only one X chromosome, or one partial X chromosome] are present, instead of the normal 46 chromosomes. Though there are many symptoms, there are a few that stand out. One is that the child would have loose skin around the neck at birth. Another is an enlargement of the aortic valve. The child may possibly have a broad chest with widely spaced nipples if TS positive. A common symptom is a low hairline, which makes the neck appear short. Girls with TS often have a short stature. Children with TS often have eyes drooping of the eyelids, and they may also as well have low-set ears. Most of these symptoms can be seen early in the child’s life, but there are a few that are not seen until the child goes through puberty. While a child with TS is going through puberty, there will often be a lack of breast development and she will never have a
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