Genetic Counseling Case Study: Fragile X Syndrome and Its Familial Implications

Asgn 2

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.

1. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
2. Identify which parent is the probable carrier of the genetic mutation?
3. Explain why this parent and the grandparents are phenotypically unaffected. Include a discussion of how this disease impacts the family across the lifespan.
4. Discuss the likelihood that the unborn child will be affected.