1. Copyright © 2009 Pearson Education, Inc. Chapter 8 Lecture Concepts of Genetics Tenth Edition Chromosome Mutations: Variation in Chromosome Number and Arrangement

2. Copyright © 2009 Pearson Education, Inc.

3. 8.1Specific Terminology Describes Variations in Chromosome Number

4. Copyright © 2009 Pearson Education, Inc. Table 8.1

5. Copyright © 2009 Pearson Education, Inc. 8.1Specific Terminology Describes Variations in Chromosome Number 8.1.1Variation in the Number of Chromosomes Results from Nondisjunction

6. Copyright © 2009 Pearson Education, Inc. Figure 8.1

7. Copyright © 2009 Pearson Education, Inc. 8.2Monosomy and Trisomy Result in a Variety of Phenotypic Effects Partial Monosomy in Humans— Cri-du-Chat Syndrome 46,5p-

8. Copyright © 2009 Pearson Education, Inc. Figure 8-2 Copyright © 2006 Pearson Prentice Hall, Inc. 46,5p- Cri-du-Chat

9. Copyright © 2009 Pearson Education, Inc. 8.3Trisomy Involves the Addition of a Chromosome to a Diploid Genome

10. Copyright © 2009 Pearson Education, Inc. Figure 8.2

11. Copyright © 2009 Pearson Education, Inc. A trisomy can be perpetuated

12. Copyright © 2009 Pearson Education, Inc. 8.3Trisomy Involves the Addition of a Chromosome to a Diploid Genome 8.3.1Down Syndrome 47,21+

13. Copyright © 2009 Pearson Education, Inc. Figure 8.3

14. Copyright © 2009 Pearson Education, Inc. Figure 8.4

15. Copyright © 2009 Pearson Education, Inc. Father’s Age Is Linked to Risk of Autism and Schizophrenia August 22, 2012 Number of mutations from Dad increases by 2 per year from age 25 on. Number of mutations from Mom is about 15 regardless of Mom’s age.

16. Copyright © 2009 Pearson Education, Inc. 8.2Trisomy Involves the Addition of a Chromosome to a Diploid Genome Patau Syndrome 47,13+

17. Copyright © 2009 Pearson Education, Inc. Figure 8.5 1:19,000

18. Copyright © 2009 Pearson Education, Inc. Trisomy Involves the Addition of a Chromosome to a Diploid Genome Edwards Syndrome 47,18+

19. Copyright © 2009 Pearson Education, Inc. 1:8,000

20. Copyright © 2009 Pearson Education, Inc. Trisomy Involves the Addition of a Chromosome to a Diploid Genome Viability in Human Aneuploidy Up to 30 percent of all fertilized eggs in humans may contain an error in chromosome number! 45,X has one of the highest incidence rates among abortuses. Also, about 80 percent of 45,X have the maternal X.

21. Copyright © 2009 Pearson Education, Inc. 8.3Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants… But very rare in animals or humans.

22. Copyright © 2009 Pearson Education, Inc. Full report here

23. Copyright © 2009 Pearson Education, Inc. Figure 8.6

24. Copyright © 2009 Pearson Education, Inc. 8.3Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants Autopolyploidy

25. Copyright © 2009 Pearson Education, Inc. Figure 8.7

26. Copyright © 2009 Pearson Education, Inc. 8.3Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants Allopolyploidy

27. Copyright © 2009 Pearson Education, Inc. Figure 8.8

28. Copyright © 2009 Pearson Education, Inc. 8.3Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants Endopolyploidy

29. Copyright © 2009 Pearson Education, Inc. 8.4Variation Occurs in the Internal Composition and Arrangement of Chromosomes

30. Copyright © 2009 Pearson Education, Inc. Figure 8.10

31. Copyright © 2009 Pearson Education, Inc. Figure 8.10a

32. Copyright © 2009 Pearson Education, Inc. Figure 8.10b

33. Copyright © 2009 Pearson Education, Inc. Figure 8.10c

34. Copyright © 2009 Pearson Education, Inc. Figure 8.10d

35. Copyright © 2009 Pearson Education, Inc. Figure 8.10e

36. Copyright © 2009 Pearson Education, Inc. 8.5A Deletion Is a Missing Region of a Chromosome

37. Copyright © 2009 Pearson Education, Inc. Figure 8.11

38. Copyright © 2009 Pearson Education, Inc. Figure 8.11a

39. Copyright © 2009 Pearson Education, Inc. Figure 8.11b

40. Copyright © 2009 Pearson Education, Inc. Figure 8.11c

41. Copyright © 2009 Pearson Education, Inc. 8.5A Deletion Is a Missing Region of a Chromosome Cri du chat Syndrome in Humans Segmental deletion

42. Copyright © 2009 Pearson Education, Inc. 8.5A Deletion Is a Missing Region of a Chromosome Drosophila Heterozygous for Deficiencies May Exhibit Pseudodominance

43. Copyright © 2009 Pearson Education, Inc.

44. 8.6A Duplication Is a Repeated Segment of the Genetic Material

45. Copyright © 2009 Pearson Education, Inc. Figure 8.13

46. Copyright © 2009 Pearson Education, Inc. Gene Xeroxing Gene Copy Number Variants Science (2007) 317:1315-1317

47. Copyright © 2009 Pearson Education, Inc. 8.6A Duplication Is a Repeated Segment of the Genetic Material Gene Redundancy and Amplification: Ribosomal RNA Genes The Bar-Eye Mutation in Drosophila

48. Copyright © 2009 Pearson Education, Inc. Figure 8.14

49. Copyright © 2009 Pearson Education, Inc.

51. 8.6A Duplication Is a Repeated Segment of the Genetic Material The Role of Gene Duplication in Evolution

52. Copyright © 2009 Pearson Education, Inc. 8.7Inversions Rearrange the Linear Gene Sequence

53. Copyright © 2009 Pearson Education, Inc. Figure 8.15

54. Copyright © 2009 Pearson Education, Inc.

55. 8.7Inversions Rearrange the Linear Gene Sequence Consequences of Inversions during Gamete Formation

56. Copyright © 2009 Pearson Education, Inc. Figure 8.16

57. Copyright © 2009 Pearson Education, Inc. Figure 8.16

58. Copyright © 2009 Pearson Education, Inc. Figure 8.16a

59. Copyright © 2009 Pearson Education, Inc. Figure 8.16b

60. Copyright © 2009 Pearson Education, Inc. 8.7Inversions Rearrange the Linear Gene Sequence Position Effects of Inversions Evolutionary Advantages of Inversions

61. Copyright © 2009 Pearson Education, Inc. 8.8Translocations Alter the Location of Chromosomal Segments in the Genome

62. Copyright © 2009 Pearson Education, Inc. Figure 8.17a

63. Copyright © 2009 Pearson Education, Inc. Figure 8.17b

64. Copyright © 2009 Pearson Education, Inc. Figure 8.17c

65. Copyright © 2009 Pearson Education, Inc. 8.8Translocations Alter the Location of Chromosomal Segments in the Genome Translocations in Humans: Familial Down Syndrome

66. Copyright © 2009 Pearson Education, Inc.

70. Figure 8.18

71. Copyright © 2009 Pearson Education, Inc.

73. 8.9Fragile Sites in Humans Are Susceptible to Chromosome Breakage Fragile X Syndrome (Martin–Bell Syndrome)

74. Copyright © 2009 Pearson Education, Inc.