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

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8.1Specific Terminology Describes Variations in Chromosome Number

Copyright © 2009 Pearson Education, Inc. Table 8.1

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

Copyright © 2009 Pearson Education, Inc. Figure 8.1

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-

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

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

Copyright © 2009 Pearson Education, Inc. Figure 8.2

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

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

Copyright © 2009 Pearson Education, Inc. Figure 8.3

Copyright © 2009 Pearson Education, Inc. Figure 8.4

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.

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

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

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

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

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.

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.

Copyright © 2009 Pearson Education, Inc. Full report here

Copyright © 2009 Pearson Education, Inc. Figure 8.6

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

Copyright © 2009 Pearson Education, Inc. Figure 8.7

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

Copyright © 2009 Pearson Education, Inc. Figure 8.8

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

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

Copyright © 2009 Pearson Education, Inc. Figure 8.10

Copyright © 2009 Pearson Education, Inc. Figure 8.10a

Copyright © 2009 Pearson Education, Inc. Figure 8.10b

Copyright © 2009 Pearson Education, Inc. Figure 8.10c

Copyright © 2009 Pearson Education, Inc. Figure 8.10d

Copyright © 2009 Pearson Education, Inc. Figure 8.10e

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

Copyright © 2009 Pearson Education, Inc. Figure 8.11

Copyright © 2009 Pearson Education, Inc. Figure 8.11a

Copyright © 2009 Pearson Education, Inc. Figure 8.11b

Copyright © 2009 Pearson Education, Inc. Figure 8.11c

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

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

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8.6A Duplication Is a Repeated Segment of the Genetic Material

Copyright © 2009 Pearson Education, Inc. Figure 8.13

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

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

Copyright © 2009 Pearson Education, Inc. Figure 8.14

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

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

Copyright © 2009 Pearson Education, Inc. Figure 8.15

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

Copyright © 2009 Pearson Education, Inc. Figure 8.16

Copyright © 2009 Pearson Education, Inc. Figure 8.16

Copyright © 2009 Pearson Education, Inc. Figure 8.16a

Copyright © 2009 Pearson Education, Inc. Figure 8.16b

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

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

Copyright © 2009 Pearson Education, Inc. Figure 8.17a

Copyright © 2009 Pearson Education, Inc. Figure 8.17b

Copyright © 2009 Pearson Education, Inc. Figure 8.17c

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

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Figure 8.18

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

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