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Art and Photos in PowerPoint® Concepts of Genetics Ninth Edition Klug, Cummings, Spencer, Palladino Chapter 8 Chromosome Mutations: Variation in Chromosome Number and Arrangement Copyright © 2009©Pearson Education, Inc. Copyright 2009 Pearson Education, Inc. 8.1 Specific Terminology Describes Variations in Chromosome Number Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Table 8.1 8.1 Specific Terminology Describes Variations in Chromosome Number 8.1.1 Variation in the Number of Chromosomes Results from Nondisjunction Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.1 8.2 Monosomy, the Loss of a Single Chromosome, May Have Severe Phenotypic Effects Partial Monosomy in Humans— Cri-du-Chat Syndrome 46,5p- Copyright © 2009 Pearson Education, Inc. 46,5p- Copyright © 2009 Pearson Education, Inc. Figure 8-2 Cri-du-Chat Copyright © 2006 Pearson Prentice Hall, Inc. 8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.2 A trisomy can be perpetuated Copyright © 2009 Pearson Education, Inc. Figure 8.3 8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome 8.3.1 Down Syndrome Copyright © 2009 Pearson Education, Inc. 47,21+ Copyright © 2009 Pearson Education, Inc. Figure 8.4 Copyright © 2009 Pearson Education, Inc. Figure 8.5 8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome 8.3.2 Patau Syndrome Copyright © 2009 Pearson Education, Inc. 47,13+ 1:19,000 Copyright © 2009 Pearson Education, Inc. Figure 8.6 8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome 8.3.3 Edwards Syndrome Copyright © 2009 Pearson Education, Inc. 47,18+ 1:8,000 Copyright © 2009 Pearson Education, Inc. Figure 8.7 8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome 8.3.4 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. Copyright © 2009 Pearson Education, Inc. 8.4 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants… But very rare in animals or humans. Copyright © 2009 Pearson Education, Inc. Full report here Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.8 8.4 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants 8.4.1 Autopolyploidy Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.9 8.4 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants 8.4.2 Allopolyploidy Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.10 8.4 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants 8.4.3 Endopolyploidy Copyright © 2009 Pearson Education, Inc. 8.5 Variation Occurs in the Internal Composition and Arrangement of Chromosomes Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.13 Copyright © 2009 Pearson Education, Inc. Figure 8.13a Copyright © 2009 Pearson Education, Inc. Figure 8.13b Copyright © 2009 Pearson Education, Inc. Figure 8.13c Copyright © 2009 Pearson Education, Inc. Figure 8.13d Copyright © 2009 Pearson Education, Inc. Figure 8.13e 8.6 A Deletion Is a Missing Region of a Chromosome Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.14 Copyright © 2009 Pearson Education, Inc. Figure 8.14a Copyright © 2009 Pearson Education, Inc. Figure 8.14b Copyright © 2009 Pearson Education, Inc. Figure 8.14c 8.6 A Deletion Is a Missing Region of a Chromosome 8.6.1 Cri du chat Syndrome in Humans Segmental deletion Copyright © 2009 Pearson Education, Inc. 8.6 A Deletion Is a Missing Region of a Chromosome 8.6.2 Drosophila Heterozygous for Deficiencies May Exhibit Pseudodominance Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Table 8.2 8.7 A Duplication Is a Repeated Segment of the Genetic Material Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.17 Gene Copy Number Variants Gene Xeroxing Science (2007) 317:1315-1317 Copyright © 2009 Pearson Education, Inc. 8.7 A Duplication Is a Repeated Segment of the Genetic Material 8.7.1 Gene Redundancy and Amplification: Ribosomal RNA Genes 8.7.2 The Bar-Eye Mutation in Drosophila Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.18 Copyright © 2009 Pearson Education, Inc. Figure 8.18a Copyright © 2009 Pearson Education, Inc. Figure 8.18b 8.7 A Duplication Is a Repeated Segment of the Genetic Material 8.7.3 The Role of Gene Duplication in Evolution Copyright © 2009 Pearson Education, Inc. 8.8 Inversions Rearrange the Linear Gene Sequence Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.19 Copyright © 2009 Pearson Education, Inc. Figure 8.20 8.8 Inversions Rearrange the Linear Gene Sequence 8.8.1 Consequences of Inversions during Gamete Formation Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.21 Copyright © 2009 Pearson Education, Inc. Figure 8.22 Copyright © 2009 Pearson Education, Inc. Figure 8.22a Copyright © 2009 Pearson Education, Inc. Figure 8.22b 8.8 Inversions Rearrange the Linear Gene Sequence 8.8.2 Position Effects of Inversions 8.8.3 Evolutionary Advantages of Inversions Copyright © 2009 Pearson Education, Inc. 8.9 Translocations Alter the Location of Chromosomal Segments in the Genome Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.23a Copyright © 2009 Pearson Education, Inc. Figure 8.23b Copyright © 2009 Pearson Education, Inc. Figure 8.23c 8.9 Translocations Alter the Location of Chromosomal Segments in the Genome 8.9.1 Translocations in Humans: Familial Down Syndrome Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.24 Copyright © 2009 Pearson Education, Inc. Figure 8.24a Copyright © 2009 Pearson Education, Inc. Figure 8.24b Copyright © 2009 Pearson Education, Inc. Figure 8.24c Copyright © 2009 Pearson Education, Inc. Figure 8.25 Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. 8.10 Fragile Sites in Humans Are Susceptible to Chromosome Breakage 8.10.1 Fragile X Syndrome (Martin–Bell Syndrome) Copyright © 2009 Pearson Education, Inc. Copyright © 2009 Pearson Education, Inc. Figure 8.26