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