Describe if chromosomal analysis is/was indicated.

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Assessment Description

Please this is a continuation from the attached files which was case study 1. The topic is down syndrome.

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:

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 for each source be included.

You are required to submit this assignment to LopesWrite. A link to the LopesWrite technical support articles is located in Class Resources if you need assistance.

Directions:

For this assignment (Part 2 of the Case Study), write a paper (1,000-1,250 words) 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.

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