State in general terms how the listed disorders differ from disorders we previously discussed like CF and Sickle cell anemia. By what mechanisms do these disorders arise? Choose one of the following disorders to focus on. Discuss the mechanisms that lead to the following disorders, the specific conditions that these people experience and the long-term prognosis for those who inherit one of these disorders. While making your comments, you could take the voice of one of the following people:
- The affected individual
- A parent of the affected individual
- A doctor advising the parents after amniocentesis or chorionic villi sampling has shown that their fetus has the disorder.
- Down Syndrome (trisomy 21)
- Down Syndrome (translocation)
- Patau Syndrome
- Edward’s Syndrome
- Kleinfelter Syndrome
- XYY or XYYY
- Turner’s Syndrome
- Cri-du-chat syndrome
- Fragile X syndrome
- Acute myelogenous leukemia
Respond to Others: Read the postings of your classmates and comment on at least one other student’s response. Do you agree with his/her interpretation? Why? Why not?
Discussion Board Grading Rubric:
1. Original posting: (7 points)
- Posting is at least 100 words, and has proper grammar and punctuation (2 points).
- Posting fully addresses the discussion board questions. (2 points)
- Discussion is original and at a critical level, not just recitation of facts. (2 points)
- Proper citation of references. (1 point)
2. Reply to peer discussion posts: (3 points)
- Discuss one point you like/agree with, and one point you dislike/disagree with and explain why. (2 points)
- Length of positing consists of approximately 100 words minimum. (1 point)
Respond to Student:
Patau Syndrome or Trisomy 13 is a condition that is most commonly associated with severe intellectual disability and physical abnormalities, like heart defects, or even brain and spinal cord abnormalities. There are also many other conditions that are a result of Patau Syndrome, including, poorly developed eyes, cleft lip, and even weak muscles overall. The most likely cause of Trisomy 13 is because there are 3 copies of chromosome 13 in each cell in the body instead of just the regular 2. This causes the normal course of development to be impaired which results in the conditions to arise. ( Trisomy 13 – Genetics Home Reference – NIH, n.d. ) Most cases of this disorder are not passed on from the parent but rather caused by some random events that occurred from the formation of the egg and sperm from the parents. Sadly, the prognosis for this disease is the people who are diagnosed with Patau Syndrome, usually only live to see a couple of days to weeks, only a mere 5% of people with this syndrome live past their first year of life.
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