Case Study: Part 2

You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 2. Use an example from your own personal practice, experience, or your own personal/family (however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment). Examples might include a patient with Duchesne’s muscular dystrophy, Huntington’s disease, Down’s syndrome, sickle-cell anemia, BRCA 1 or BRCA 2 mutations, or another genetic disorder that you or the organization you practice in may specialize in treating.

General Requirements:

Use the following information to ensure successful completion of the assignment:

• Doctoral learners are required to use APA style for their writing assignments. 
• This assignment requires that at least three additional scholarly research sources related to this topic and at least one in-text citation for each source be included.
• You are required to submit this assignment to LopesWrite for similarity score check.

Directions:

For this assignment (Part 2 of the Case Study), write an assignment of (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:

1. Describe if chromosomal analysis is/was indicated.
2. Detail the causes of the disorder.
3. Describe the disorder in terms of its origin as either a single gene inheritance or as a complex inheritance and considerations for practice and patient education.
4. Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.

RESOURCES

Goergen, A. F., Ashida, S., Skapinsky, K., de Heer, H. D., Wilkinson, A. V., & Koehly, L. M. (2016). What you don’t know: Improving family health history knowledge among multigenerational families of Mexican origin. Public Health Genomics, 19(2), 93-101. https://doi.org/10.1159/000443473

Welch, B. M., Wiley, K., Pflieger, L., Achiangia, R., Baker, K., Hughes-Halbert, C., Morrison, H., Schiffman, J., & Doerr, M. (2018). Review and comparison of electronic patient-facing family health history tools. Journal of Genetic Counseling, 27(2), 381-391. https://doi.org/10.1007/s10897-018-0235-7 

Canary, H. E., Elrick, A., Pokharel, M., Clayton, M., Champine, M., Sukovic, M., Jung, H. S., & Kaphingst, K. A. (2019). Family health history tools as communication resources: Perspectives from Caucasian, Hispanic, and Pacific Islander families. Journal of Family Communication, 19(2), 126-143. https://doi.org/10.1080/15267431.2019.1580195

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