Reference no: EM132836642

Compare and Contrast

This assignment is a compare and contrast between two chromosomal abnormality disorder/syndromes. The purpose of this activity is to demonstrate understanding of a chromosomal disorder, the manifestations, and treatment. Explanations must be clear and concise covering all aspects of physiology and pathophysiology at the cellular, tissue, and organ level where appropriate. For this compare and contrast assignment, your textbook should provide all needed information to complete this assignment. Each item should have a response that is approximately 100-400 words and word count does not include citations. Each response should have 1-2 citations (preferably not the same citation if using two or more). Summarizing or paraphrasing content from the textbook or other sources requires citation and reference. Direct quotes from the textbook or other sources are not allowed. Items with direct quotes will not receive credit. Place the response under the respective item.

6 year old female, comes into your clinic with chief complaint of right ear pain. Herfather reports concerns that she is small for her age. During examination, you notice her nipples are widely spaced and mild webbing of her neck.

1. Which chromosomal abnormality disorder/syndrome do you suspect she has? Provide rationale, also, explain the next step in verifying the disorder after a thorough history and physical.

2. Explain how the chromosomal abnormality developed (using your reported response #1) and how does it differ from Klinefelter syndrome. In your response, address why the disorders/syndromes are associated with gender (biological concept), report the karyotype/s for both, and prevalence for both.

3. Compare how the disorder/syndrome from response #1 and Klinefelter syndrome affects the gonads (primary reproductive organs) respectively and how it is manifested in each. Address hormones where appropriate.

4. Explain methylation and address the role of methylation (hypo, hyper) in the disorder from response #1 and Klinefelter syndrome. Identify three phenotypes (other than the reproductive system issues) that occur in each (disorder/syndrome identified in #1 and Klinefelter syndrome) because of the issues of hypo/hypermethylation (epigenetics), chromosomal abnormality, RNA response, or protein interaction.

5. Compare and contrast the main treatments for each (disorder/syndrome identified in #1 and Klinefelter syndrome) and explain how it will affect individuals with the disorder/syndrome. Explain how the treatments will affect quality of life in both.