Questions

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  1. What is the pseudoautosomal region?
  2. List three karyotypes that are characteristic of Down syndrome. 
  3. What is the Philadelphia Chromosome? 
  4. What trisomies are compatible with life? 
  5. Give the karyotype and 3 symptoms of Turner syndrome 
  6. Describe alternative splicing and its consequence. 
  7. Give the karyotype and 3 symptoms of Edwards syndrome. 
  8. What is the definition and location of promoters, enhancers, and silencers? 
  9. Explain the role of folic acid in pregnancy.

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