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.
- 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. Include a discussion of how this disease impacts the family across the lifespan.
- Discuss the likelihood that the unborn child will be affected.
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