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Klinefelter’s Syndrome By Greg Schreck and Troy Krause Klinefelter’s syndrome is caused by a nondisjunction event during meiosis 1. A gamete ends up with two sex chromosomes, and when the two sex chromosomes of one parent are added to the one of the other it causes a trisomy in their offspring. Because it is caused by nondisjunction, the disorder is neither dominant or recessive. Klinefelter’s Syndrome is the result of nondisjunction, so the parents may have perfectly normal genotypes. The abnormality that occurs is that a male inherits an extra X chromosome for an XXY genotype (not XY.) 1 in 1000 men have the syndrome, and 1 in 500 males have the trisomy but do not express symptoms. Women cannot inherit this condition. Because the disease affects the testes, most people who have it find that they are sterile, and so they cannot pass it onto their offspring. A karyotype is all that’s needed to diagnose individuals with Klinefelter’s syndrome as an extra sex chromosome is rather easy to spot. The disorder can be diagnosed prenatally as well using chorionic villus sampling or amniocentesis. Most men have no idea that they’re affected with this disease until they hit puberty. Symptoms include: -More breast tissue than normal -A less muscular body -Little to no facial or body hair -Sterility (can’t have children) -Learning disabilities (not classified as mental retardation) are also common. The Life expectancy of an individual with klinefelter’s syndrome is 5 years less than average. Injections of testosterone are used as treatment to replace the testosterone that would normally be produced by the body. The synthetic testosterone has the same function as testosterone naturally found in the human body; it increases muscle mass and hair growth. No one’s really pursuing cures or treatments of klinefelter’s. the disorder is easily managed with horomone therapies and there’s seemingly no possible cure because the extra chromasome cant just be removed from all the cells of the afflicted. Sources: www.wikipedia.com www.nlm.nih.gov www.webmd.com http://www.nlm.nih.gov/medlineplus/