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Concepts of Genetics
Ninth Edition

Klug, Cummings, Spencer, Palladino

Chapter 8
Chromosome Mutations: Variation in Chromosome
Number and Arrangement

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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

PartialMonosomyinHumans
CriduChatSyndrome
46,5p

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46,5pCriduChat

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Figure 8-2

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8.3 Trisomy Involves the Addition of a

Chromosome to a Diploid Genome

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Figure 8.2

Atrisomycanbeperpetuated

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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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Fullreporthere
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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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Copyright 2009 Pearson Education, Inc.

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
Segmentaldeletion

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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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Copyright 2009 Pearson Education, Inc.

Table 8.2

8.7 A Duplication Is a Repeated Segment

of the Genetic Material

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Copyright 2009 Pearson Education, Inc.

Figure 8.17

GeneCopyNumberVariants
GeneXeroxing

Science(2007)317:13151317
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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 (MartinBell Syndrome)

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Copyright 2009 Pearson Education, Inc.

Figure 8.26