Klinefelter Syndrome Research Paper

Hannah Birtell
BIO 207
Human Genetics
March 1, 2018
Klinefelter Syndrome In order to better understand a karyotype and different chromosome disorders, the class was assigned a karyotype project. For this project, each of us were given a packet of instructions and a picture of a chromosome spread for a chromosome disorder. I received Klinefelter Syndrome as my disorder. I cut out the chromosomes on one of the sheets. I then worked to place these chromosomes in their position on the karyotype form. I first separated the chromosomes into their size and shape categories that correspond with different chromosome pair numbers. Once the chromosomes were sorted, I worked to match the chromosomes up with their match. I used size, and banding patterns …show more content…
Being able to see the chromosomes for this disorder does not give an indication about the range of characteristics seen with Klinefelter Syndrome. Klinefelter Syndrome is a chromosome disorders that occurs when a male has an extra X chromosome. Klinefelter Syndrome has a wide range of characteristics that often results in the disorder not being diagnosed until adulthood. Some males with Klinefelter Syndrome may have few noticeable signs, while others are noticeably affected by the disorder. As an infant, males suffering from Klinefelter Syndrome may have weak muscles, slower motor development, a delay in speaking, a quieter and more submissive personality, and, in extreme cases, testicles that have not descended into the scrotum. As the male gets older, they may be taller than normal and have a more girlish figure. When the time for puberty comes, boys with Klinefelter Syndrome may not go through puberty, experience it later on in life or not go through …show more content…
Approximately 1 in every 500 to 800 baby boys are born each year with this disorder. In the United States, about 3000 baby boys are born with this disorder ("Klinefelter Syndrome"). Despite the disorder being common, most cases of Klinefelter Syndrome do not make it to term. Of all spontaneous abortions, or miscarriages, 3.4% occur because of Klinefelter Syndrome. When a child is conceived with Klinefelter Syndrome, it is 40 times more likely that the baby will be miscarried rather than make it to term. (Ljunger). The babies that do make it to term show a variety of characteristics, but most men are able to live mostly normal lives. Almost 100% of men diagnosed with Klinefelter Syndrome are infertile but through use of fertility services, fathering a child may be a possibility. Men with Klinefelter Syndrome are at a higher risk for epilepsy, osteoporosis, several autoimmune disorders, diabetes, and breast and germ cell tumors. Men with this disorder have a slightly shorter life span than men without. Men with Klinefelter Syndrome tend to die about 2.1 years earlier. Scientists do not currently have the ability to change the chromosomal make of a person yet, so there is no cure for Klinefelter Syndrome. Men may choose to have testosterone injections when they begin puberty to help their bodies develop more normally. Testosterone injections help build muscle mass, stimulate hair growth and increase sex drive. Men

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