Aneuploidy is a condition in which the human cell has more than the normal 46 chromosomes- 22 pairs of autosomal chromosomes along with 1 pair of sex chromosomes. Some examples of aneuploidy you may be familiar with includes Down’s Syndrome, but there are many other conditions associated with aneuploidy that you may not have heard of. Much of the reason for this is because of the variety in the levels of impact that aneuploidy can have on the manifestation of disease.
For this week’s forum review and select two genetic disorders that exhibit aneuploidy and compare and contrast them. Address the following concepts in your initial post:
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- What type of aneuploidy is exhibited? (monosomic, disomic, trisomic, etc.)
- What conditions are associated with this type of aneuploidy?
- Which chromosomes are impacted?
- What is the impact of the aneuploidy? What is the severity?
- What type of manifestations or signs and symptoms are associated?
- Is it found equally in men and women? Are they fertile or infertile?
- Does it impact physical characteristics like features, genitalia, mental capabilities, or health ?
- What is the rate of incidence or prevalence? How often does it occur?
- Are there risk factors for developing the aneuploidy?
- Are there any other interesting characteristics that have been linked or suggested in regards to these examples of aneuploidy?
Avoid constructing your forum as a list with answers but you can organize your information into a table with a comprehensive comparison between the two examples of aneuploidy. You can also summarize in paragraph form, summarizing each and doing a comparison of their similarities and differences. Draw from your text and additional resources to complete your post and include in-text citations and a bibliography to support your findings.
Discussion Submission Instructions
This discussion requires one (1) initial post (IP) and two (2) reply posts (RPs). These posts will be assessed according to the RN-BSN Discussion Grading Rubric.
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