Klinefelter's Syndrome Key Facts

Topics: Y chromosome, Klinefelter's syndrome, Aneuploidy Pages: 2 (684 words) Published: January 29, 2013
Klinefelter’s Syndrome
“Harry Fitch Klinefelter specialized in endocrinology and rheumatology (weak bones) and through his studies Klinefelter's syndrome was described in 1942,” (Encyclopedia Britannica). The diagnosis of the patient is usually done at a young age through a series of many tests, one in which the doctor finds if the patient has two X-Chromosomes and one Y-Chromosome. As a random genetic mishap during the formation of the fetus, Klinefelter’s has many symptoms. The treatment is not all that complicated if one were to be tested at a young age. Through learning about the definition and diagnosis, the symptoms and causes, and the treatment and other effects of Klinefelter’s syndrome; science can help all those who are affected with double XY chromosome disorder. Klinefelter’s syndrome is diagnosed and defined through seeing several symptoms in the child or adult in question of the disease. Klinefelter’s syndrome is defined as, “An abnormal condition in a male characterized by usually two X and one Y chromosomes,” (Encyclopedia Britannica). To diagnose a person, tests are usually done at a young age on the male [about two to three days old]; these tests may harm the child but are beneficial. Hormone testing and chromosome analysis through karyotypes are common tests for this genetic disorder. “Hormone testing is a specimen sample that shows abnormal hormone levels of testosterone in the male that concludes the symptoms of Klinefelter’s,” (Nippoldt). Chromosome analysis follows the first test to check the shape and number of the chromosomes of the affected person. Early treatments will better benefit the male affected with Klinefelter’s syndrome, and will also reduce the symptoms of this genetic disorder.

Several symptoms of this random disorder can lead to later problems in life. This disorder is an effect of a random event that happens when the DNA of the zygote is first developed through nondisjunction. “About 60% of embryos do not survive during...
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