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Genetic Disorders

explanatory Essay
830 words
830 words
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Genetic Disorders
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 many 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. “About one-third of individuals with fragile X syndrome have features of autism spectrum disorders the affect communication and social interaction.” Unlike many other syndromes those affected by Fragile X are expected to have a average life span and have fewer health problems.
According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated w...

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... they are still human beings and they deserve to be treated like one. Every individual is affected by some kind of disorder.

Works Cited

Schoenstadt, M.. N.p.. Web. 12 Mar 2014. .

The U.S, National Library of Medicine,. N.p. Web. 12 Mar. 2014. .

"Associated Conditions." National Down Syndrome Society. N.p., n.d. Web 12 Mar. 2014. http://www.ndss.org/Resources/Health-Care/Associated-Conditions/ "Turner Syndrome." - Genetics Home Reference. N.p., n.d. Web. 11 Mar. 2014. .

Schoenstadt. "History of Klinefelter Syndrome." EMedTV: Health Information Brought To Life. N.p., n.d. Web. 11 Mar. 2014. .

In this essay, the author

  • Explains that genetic disorders can alter physical appearance and cause mild to severe mental retardation, such as fragile x syndrome, down syndrome and turners syndrome.
  • Explains fragile x syndrome is caused by the expansion or lengthening of the fmr1 gene on the x chromosome, known as a gene mutation.
  • Explains that people with fragile x have narrow faces, large ears, a prominent jaw and forehead, and are hyperactive and fidgety.
  • Explains that down syndrome is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. it is caused by an extra copy of the 21st chromosome.
  • Explains that people with down syndrome stick out more to others than individuals with fragile x or other syndromes.
  • Explains that klinefelter's syndrome is a chromosomal condition that affects only the male physical and cognitive development.
  • Explains that turner's syndrome affects the development of females. one third to one half of individuals with turner syndrome are born with a heart defect.
  • Explains that individuals with fragile x, down syndrome, klinefelter's syndrome and turner syndrome can learn just like normal people.
  • Cites schoenstadt, m., national library of medicine, and the national down syndrome society.
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