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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
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Table 8.1
8.1 Specific Terminology Describes
Variations in Chromosome Number
8.1.1 Variation in the Number of Chromosomes
Results from Nondisjunction
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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-
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46,5p-
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Figure 8-2
Cri-du-Chat
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8.3 Trisomy Involves the Addition of a
Chromosome to a Diploid Genome
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Figure 8.2
A trisomy can be perpetuated
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Figure 8.3
8.3 Trisomy Involves the Addition of a
Chromosome to a Diploid Genome
8.3.1 Down Syndrome
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47,21+
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Figure 8.4
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Figure 8.5
8.3 Trisomy Involves the Addition of a
Chromosome to a Diploid Genome
8.3.2 Patau Syndrome
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47,13+
1:19,000
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Figure 8.6
8.3 Trisomy Involves the Addition of a
Chromosome to a Diploid Genome
8.3.3 Edwards Syndrome
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47,18+
1:8,000
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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.
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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.
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Full report here
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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
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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
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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
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8.5 Variation Occurs in the Internal
Composition and Arrangement of
Chromosomes
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Figure 8.13
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Figure 8.13a
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Figure 8.13b
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Figure 8.13c
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Figure 8.13d
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Figure 8.13e
8.6 A Deletion Is a Missing Region of a
Chromosome
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Figure 8.14
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Figure 8.14a
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Figure 8.14b
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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
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8.6 A Deletion Is a Missing Region of a
Chromosome
8.6.2 Drosophila Heterozygous for Deficiencies May
Exhibit Pseudodominance
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Table 8.2
8.7 A Duplication Is a Repeated Segment
of the Genetic Material
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Figure 8.17
Gene Copy Number Variants
Gene Xeroxing
Science (2007) 317:1315-1317
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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
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Figure 8.18
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Figure 8.18a
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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
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8.8 Inversions Rearrange the Linear Gene
Sequence
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Figure 8.19
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Figure 8.20
8.8 Inversions Rearrange the Linear Gene
Sequence
8.8.1 Consequences of Inversions during Gamete
Formation
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Figure 8.21
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Figure 8.22
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Figure 8.22a
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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
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8.9 Translocations Alter the Location of
Chromosomal Segments in the
Genome
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Figure 8.23a
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Figure 8.23b
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Figure 8.23c
8.9 Translocations Alter the Location of
Chromosomal Segments in the
Genome
8.9.1 Translocations in Humans: Familial Down
Syndrome
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Figure 8.24
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Figure 8.24a
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Figure 8.24b
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Figure 8.24c
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Figure 8.25
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8.10 Fragile Sites in Humans Are
Susceptible to Chromosome Breakage
8.10.1 Fragile X Syndrome (Martin–Bell Syndrome)
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Figure 8.26
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