Fragile X Syndrome By Joshua Grant

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Fragile X sydrome is a chromosomal born defect that is found in the lower part of the FMR1 gene chromosome the part where you can see a gap.

  1. About 1 in 1,500 men are affected while there are about 1 in 1000 women who carry this disorder, although it is most common in males.
  2. The common symtoms that affect those are men are: generally tall, physically strong, prominent nose and jaw, increased hair length, large testes, prone to epileptic seizures, elongated face, increased head circumference, large exerted ears, high pitched jocular speech, connective tissue disorders, macroorchidism, hypotonia, and have mild to severe intellectual imparement. Females don't have as severe symtoms as men.

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  1. Fragile X sydrome is an X linked recessive pattern of inheritance. This is true of the pedigree that shows that the parent 1i is infected and has passed it down to all other family members such as 2i, 2v, and viii
  2. The disorder has no aids or treatment but there is some psychiatric counceling which helps them feel better about themselves
  3. The prognosis is that there is no cure so there is no prognosis
  4. The quality of life I imagine would seem like I couldn't do more than what half the world could do, due to my intellectual thinking, and that I would have to be watched all the time and be restricted to the things I want to do.
  5. The likely outcome for the disorder is that they are restricted to the things like going out in public without another person and to be watched most of the time, the likely life span for someone with Fragile X Sydrome is from 5 to 25 years.
  6. Watch the videos below for more information

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References

fragile X syndrome. (n.d.). Retrieved April 6, 2017, from https://www.counsyl.com/services/family-prep-screen/diseases/fragile-x-syndrome/

Fragile X Syndrome [Video file]. (n.d.). Retrieved from https://youtu.be/2dSIbPswF4A

Genetics and Inheritance - National Fragile X Foundation. (n.d.). Retrieved April 6, 2017, from https://fragilex.org/fragile-x/genetics-and-inheritance/

Living with Fragile X [Video file]. (n.d.). Retrieved from https://youtu.be/QrWu4ncrDyg

Smith, T., & British Medical Association (Eds.). (1999). The British Medical Association A-Z family health encyclopedia. London: Dorling Kindersley.

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Joshua Grant
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Made by Joshua Grant, edited by Joshua Grant

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