You will be creating a case report 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 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 other genetic disorder that you and/or the organization you practice in may specialize in treating.
Use the following information to ensure successful completion of the assignment:
- This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
- Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
- This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
- You are required to submit this assignment to Turnitin. Please refer to the directions in the Student Success Center.
For this assignment (Part 2 of the Case Report), write a 1,000-1,250 word paper incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:
- Describe if chromosomal analysis is/was indicated.
- Detail the causes of the disorder.
- 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.
- Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.
Portfolio Practice Hours:
Practice immersion assignments are based on your current course objectives, and are intended to be application-based learning using your real-world practice setting. These assignments earn practice immersion hours, and are indicated in the assignment by a Portfolio Practice Hours statement which reminds you, the student, to enter in a corresponding case log in Typhon. Actual clock hours are entered, but the average hours associated with each practice immersion assignment is 10.
You are required to complete your assignment using real-world application. Real-world application requires the use of evidence-based data, contemporary theories, and concepts presented in the course. The culmination of your assignment must present a viable application in a current practice setting. For more information on parameters for practice immersion hours, please refer to DNP resources in the DC Network.