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Aneuploidy

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:

  • 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.

For your one (1) initial post:

  • Click Start a New Conversation, and enter the title and content of your post in the appropriate boxes. Click Post when you are ready to submit.
  • We recommend that you type your post in Microsoft Word, save it to your computer, and then copy and paste the text into Sakai. This way, you reduce the chance of losing your work in the rare case of a technical issue. Do not submit the post as an attachment.
  • Your initial post must be at least 250-300 words in length.
  • Your initial post is due on 11:55 PM Eastern Time on Thursday of this week.
  • Your initial post requires the use of at least one (1) outside source with citation and reference to support your discussion. Your citation and reference must be formatted using APA Style.