Extensions and Exceptions to Mendel’s Laws
    1. What is Tourette Syndrome?
    2. Why is it that the inheritance pattern or Tourette syndrome

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      is often not obvious in a pedigree?

    3. List 8 factors that disrupt expected Mendelian phenotypic

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      ratios.

    4. What are lethal alleles?
    5. What is congenital adrenal hyperplasia?
    6. List and describe the four forms of congenital adrenal

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      hyperplasia.

    7. What is incomplete dominance?
    8. In the case of incomplete dominance the heterozygote has a

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      phenotype that is intermediate to those of the …

    9. What is familial hypercholeterolemia? What is it an example
of? 10. In the case of codominance, heterozygotes fully express…

11. What is the classic example of codominance?

12. What are antigens?

13. In regards to the ABO blood groups, what are the 6 possible

genotypes and the 4 possible phenotyeps? 14. What is epistasis?

15. What is the Bombay phenotype? How does it provide an

example of epstasis?
 
 

16. What is penetrance?

17. How is the penetrance of a gene expressed?

18. What is polydactyly? How is it an example of incomplete

penetrance? 19. A genotype is said to be incompletely penetrant if…

20. What is expressivity?

21. A phenotype is variably expressive if …

22.Give an example of a variably expressive phenotype.

23. Penetrance is about ______________________________

and expressivity is about __________________________.

24. What is pleiotropy?

25. Pleiotropic traits are difficult to trace through families

because…

26. List three examples of pleiotropic traits.

27. What is Marfan syndrome? Symptoms?

28. What is porphyra? Symptoms?

29. What is sickle cell anemia? Symptoms?

30. What is a phenocopy? Give an example.

31. What is genetic heterogeneity? Give an example.

32. List three exceptions to Mendel’s laws.

33. Mitochondrial inheritance is an exception to…

34. Describe mtDNA.

35 Mitochondrial genes are said to be ____________________

inherited. Only ______________ transmit mitochondrial genes.

36. mtDNA is sometimes called ______________________.

37. What is uniparental disomy?

38. Uniparental disomy may account for two syndromes associated

with a region of chromosome 15. Name the two syndromes. 39. List six symptoms associated with Prader-Willi syndrome.

40. List six symptoms associated with Angelman syndrome.

41. What is genomic imprinting.

42. What is linkage?