Genetic Mutation

Assignment Instructions

Lisa Anderson, a 22 y.o., 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.

Please use the following headings/subheadings as a guide to draft your paper:

  1. Introduction (including a brief purpose statement)
  2. Identify the genetic mutation responsible for fragile X-associated mental retardation.
  3. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
  4. Identify which parent is the probable carrier of the genetic mutation?
  5. Explain why this parent and the grandparents are phenotypically unaffected.
  6. Discuss the likelihood that the unborn child will be affected?
  7. Conclusion

In regards to APA format, please use the following as a guide:

  • Include a cover page and running head (this is not part of the 4-5 page limit)
  • Include transitions in your paper (i.e. headings or subheadings)
  • Use in-text references throughout the paper
  • Use double space, 12 point Times New Roman font
  • Spelling, grammar, and organization are appropriate
  • Include a reference list (this is not part of the 4-5 page limit)
  • Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA)

 

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