Genetic and Chromosocal Abnormalities

Topics: Y chromosome, Aneuploidy, Klinefelter's syndrome Pages: 4 (1142 words) Published: May 1, 2013
Survey of Lifespans
Professor Nalbandian
Due Date: October 1, 2012
Topic 1 : Activity 2

Genetic and Chromosomal Abnormalities

There are many genetic and chromosomal abnormalities that ail much of our population today. The three that I chose to discuss, not only peak my interest, but are also disorders that I plan to work with in the future: Klinefelter Syndrome, Fragile X Syndrome, and Downs Syndrome. All three disorders impair those that they affect, in mental, cognitive and physical aspects of their lives. Thankfully today we have a lot of helpful information that categorizes, assists and educates people on these disorders. Although these three disorders differ from each other, they also share a large amount of similar characteristics, that unite those that suffer from them.

Klinefelter Syndrome also known as “47 XXY Syndrome” is a chromosomal abnormality that only affects males, 1 out of every 1,000. These males are born with at least one extra X (sex) chromosome. The symptoms include: learning disabilities, personality impairment, enlarged breast tissue, small/firm testis, diminished (pubic, axillary, and facial) hair, tall stature, abnormal body proportions (long legs, small trunk), and sexual dysfunction. Males that have more than one extra X chromosome often suffer from more severe physical and cognitive symptoms, than those with just one extra X chromosome. There is no known cure or specific prevention measures for this disorder, but there are some symptoms such as; delayed puberty, hair growth, and sex drive, that can be treated medically.

Socially, it is easier on males with Klinefelter Syndrome if they are diagnosed at a younger age, this eliminates the struggle of not understanding what is wrong and allows for the treatment of certain symptoms. The earlier treatment helps those ailed by this disorder to lead a more “normal” childhood, adolescence and eventually adulthood. The majority of the issues occur throughout childhood...
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