Genetic Disorders and Down Syndrome Essay

Genetic Disorders and Down Syndrome Essay

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A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes” (Letsou). Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. “Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.” The X chromosome is one of two sex determining chromosomes. When the gene lengthens it switches off production of a protein that is involved in brain development and other functions.
There are different characteristics with individuals who have Fragile X. For example, they have narrow faces, large ears, a prominent jaw and forehead. Most people with Fragile X can get very angry and they can have bad anxiety. Also, they are usually hyperactive and they tend to be very fidgety they do not seem to stay still they are always moving and doing something. Occasionally, it can be very hard to understand what an individual with Fragile X is saying. They tend to talk to fast and jumble their words. To clearly underst...


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"History, Discovery and Treatment of TS - Turner Syndrome."
"Turner Syndrome." - Genetics Home Reference. N.p., n.d. Web. 11 Mar. 2014. .
Downs Syndrome Association. N.p., n.d. Web. 12 Mar. 2014. .
Schoenstadt. "History of Klinefelter Syndrome." EMedTV: Health Information Brought To Life. N.p., n.d. Web. 11 Mar. 2014. .
Turner Syndrome. N.p., n.d. Web. 13 Mar. 2014. .
Letsou, Anthea. "What Are Genetic Disorders?" What Are Genetic Disorders? N.p., n.d. Web. 10 Mar. 2014. .

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