Fragile X Associated Mental Retardation

Fragile X Associated Mental Retardation

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
Please 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:  Identify 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: Identify 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.

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