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