A young woman is referred for genetic counseling. She has a 3-year-old with developmental delay and small joint hyperextensibility. The pediatrician 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. What is the genetic mutation responsible for fragile X-associated mental retardation? Does it cause the clinical syndrome of development delay, joint hyperextensibility, large testes, and facial abnormalities? 2. Which parent is the probable carrier of the genetic mutation? Explain why this parent and the grand parents are phenotypically unaffected. 3. What is the likelihood that the unborn child will be affected?
A young woman is referred for genetic counseling. She has a 3-year-old with developmental delay and small joint hyperextensibility. The pediatrician 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. What is the genetic mutation responsible for fragile X-associated mental retardation? Does it cause the clinical syndrome of development delay, joint hyperextensibility, large testes, and facial abnormalities?
2. Which parent is the probable carrier of the genetic mutation? Explain why this parent and the grand parents are
3. What is the likelihood that the unborn child will be affected?
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