NursingCase studyGenetics

DNP 810 Week 3: case report part 2 guide

Part two is about mechanism, and the acquired-versus-inherited question is the one that determines what you can honestly tell the family about their own risk.

Aug 15, 2026

Editorial process

Last reviewed · August 15, 2026

Written by

Aaron Bishop

MA, Education

assignment interpretation and research-methods coaching across disciplines

Reviewed by

Dr. Nathan Cole

PhD, Rhetoric & Composition

Argumentation and thesis development

On this page

Interpret the task
Assignment instructions
Deliverables
Proposed outline
Research plan
Reference shortlist
Final review

Part two is inheritance, and the mutation itself

Part two adds to the same case and moves from what the disease is to how it came about, so assume the reader has part one and do not repeat it. The first element asks whether chromosomal analysis is or was indicated, and the answer is often no — karyotype and microarray answer questions about whole chromosomes and large copy number changes, so they are indicated for conditions like Down syndrome and for unexplained developmental presentations, and they are the wrong test for a single-nucleotide change in a known gene. Saying explicitly that chromosomal analysis was not indicated, and why, is a better answer than describing a karyotype that nobody ordered. The wrong test ordered confidently is worse than no test, and a doctoral paper is expected to be able to say which one is which. Ordering it anyway wastes a fortnight and answers a question nobody asked.

The single-gene versus complex distinction then drives the practice and education implications, which is why the prompt attaches them. A single-gene condition with a known pattern lets you give relatives a recurrence risk as a number and offer cascade testing; a complex condition lets you say only that risk is elevated, which is a different conversation and one families find much harder. Say which you are dealing with and what follows for education. Then the mutation analysis, where precision matters: name the gene, the type of change — missense, nonsense, frameshift, repeat expansion, deletion — and what it does to the protein. The acquired versus inherited question is not a formality. A germline variant is in every cell and is heritable; a somatic mutation arises in a tissue during life and is not. Getting that wrong misinforms an entire family about their own risk, which is exactly why the assignment asks.

Likely learning objectives

Inferred from the brief — check these against your own rubric.

01
Judge whether chromosomal analysis is the right investigation for a condition.
02
Classify a disorder as single-gene or complex and draw the practice consequences.
03
Analyse a mutation by type and functional effect.
04
Distinguish germline from somatic mutation and explain what follows for the family.

Assignment instructionsQuoted verbatim

Read the full question

Review every instruction before using the planning guidance that follows.

Details: 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. 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 from each source be included. You are required to submit this assignment to LopesWrite. Please refer to the directions in the Student Success Center. Directions: 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. To earn portfolio practice hours, enter the following after the references section of your paper: Practice Hours Completion Statement DNP-810 I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I have also tracked said practice hours in the Typhon Student Tracking System for verification purposes and will be sure that all approvals are in place from my faculty and practice mentor. Case Report: Part 2 DNP 810 Week 3 Case Report Part 2

Turn the brief into deliverables

01
A reasoned answer on whether chromosomal analysis was indicated.
02
The causes of the disorder.
03
Its classification as single-gene or complex, with practice and education implications.
04
An analysis of the mutation, including acquired or inherited and the mechanism.
05
The Practice Hours Completion Statement after the references.

Chromosomal analysis, causes, pattern, then the mutation

Chromosomal analysis

State whether it was indicated and explain what it would and would not detect.

Causes of the disorder

Set out the underlying cause at the level the evidence supports.

Inheritance pattern and its consequences

Classify as single-gene or complex and draw out practice and education implications.

The mutation

Name the gene, the type of change, its functional effect and whether it is germline or somatic.

Sources on mechanism, not on the condition generally

Recommended databases

MedlinePlus Genetics
National Human Genome Research Institute
PubMed Central
StatPearls

Search sequence

1.
Check what chromosomal microarray and karyotype each detect before answering element one.
2.
Confirm the specific variant type reported for your condition rather than the gene alone.
3.
Search the recurrence risk figure for the inheritance pattern you identify.
4.
Verify whether the variant in your case is germline or somatic before writing about family risk.

Reference shortlist

These are authoritative starting points, not a ready-made bibliography. A qualified reviewer must confirm that each source fits the assignment and supports the claim beside which it is cited.

Nothing here is cleared for citation until you have read it.

01
Chromosome Abnormalities Fact Sheet
National Human Genome Research Institute · 2024
What chromosomal analysis detects, which is what decides whether it was indicated in your case.
02
What are complex or multifactorial disorders?: MedlinePlus Genetics
MedlinePlus, U.S. National Library of Medicine · 2024
The complex-inheritance side of the classification, and what can and cannot be told to a family.
03
Genetic Disorders
National Human Genome Research Institute · 2024
Single-gene conditions and their inheritance patterns, the other side of the classification.
04
DNA Replication Mechanisms - Molecular Biology of the Cell - NCBI Bookshelf
Alberts et al., Molecular Biology of the Cell (NCBI Bookshelf) · 2002
How replication errors arise, which is the mechanism behind how a mutation occurs.
05
Genetics and Human Traits: MedlinePlus Genetics
MedlinePlus, U.S. National Library of Medicine · 2024
How genes and environment combine, useful when the classification is not clean.

Review before submission

Common mistakes

Repeating part one instead of building on it.
Describing chromosomal analysis for a condition where it is not indicated.
Classifying the inheritance without drawing any practice consequence.
Naming the gene without naming the type of variant or its effect.
Confusing germline with somatic, which misstates the family's risk.

Submission checklist

Have you answered the chromosomal analysis question with a reason?
Is the inheritance classification stated and used?
Does the mutation analysis name the type of change and its effect?
Is germline or somatic stated explicitly?
Do the education implications follow from the classification?

Use this guide to plan and review your own work. Follow your institution's rules and read our academic-integrity policy.