Identity the genetic mutation responsible for fragile X-associated mental retardation.

Advance Patho

Assignment 1

Overview

The purpose of this paper is to address the following clinical scenario with the use of your, external credible literature, and/or reliable electronic sources. Use the guide below to draft your paper and review the rubric to ensure you have met the assignment criteria. The expected length of the paper is approximately 3-4 pages, which does not include the cover page and reference page(s).
Lisa Anderson, a 22-year-old Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnosed fragile X-associated mental retardation. She is currently pregnant with her second child at 14 weeks of gestation. The family history is unremarkable.

Instructions

Answer the following questions. Choose the headings/subheadings as described below. You should begin your paper with a one-paragraph introduction that includes the purpose statement.
1. Genetic mutation: Identity the genetic mutation responsible for fragile X-associated mental retardation.
2. Clinical presentation: Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
3. Identification of carrier: Identity which parent is the probable carrier of the genetic mutation?
4. Phenotypic effects explained: Explain why this parent and the grandparents are phenotypically unaffected. Include a discussion of how this disease impacts the family across the lifespan.
5. Likelihood for affecting future children: Discuss the likelihood that the unborn child will be affected.

AS-Adv-Patho-Assignment-1-doc

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Identity the genetic mutation responsible for fragile X-associated mental retardation.

APA

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