Genetic mutation

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.

VII. Conclusion—end with a one paragraph conclusion

 

Please follow the instructions below to meet APA formatting requirements

  • Include a cover page and running head (this is not part of the 3-4 page limit)
  • Include transitions in your paper (i.e. headings or subheadings—see the bolded suggestions above)
  • 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 3-4 page limit)
  • Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA)

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