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Copyright © 2009 Pearson Education, Inc.
Chapter 8 Lecture
Concepts of Genetics Tenth Edition
Chromosome Mutations: Variation in Chromosome Number and Arrangement
Copyright © 2009 Pearson Education, Inc.
Copyright © 2009 Pearson Education, Inc.
8.1 Variations in Chromosome Number
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Copyright © 2009 Pearson Education, Inc.
Nondisjunction during the first and second meiotic divisions
Variation in the Number of Chromosomes Results from Nondisjunction
Copyright © 2009 Pearson Education, Inc. Science (2007) 317:1315-1317
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8.2 Monosomy and Trisomy Result in a Variety of Phenotypic Effects
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Partial Monosomy in Humans Cri-du-Chat Syndrome, 46,5p-
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Trisomy Involves the Addition of a Chromosome to a Diploid Genome
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During meiosis I three copies of a single chromosome form a trivalent configuration
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Down Syndrome 47, 21+
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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.
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1:19,000
Patau Syndrome 47,13+
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1:8,000
Edwards Syndrome 47,18+
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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% of 45,X have the maternal X.
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8.3 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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Copyright © 2009 Pearson Education, Inc.
Copyright © 2009 Pearson Education, Inc.
Copyright © 2009 Pearson Education, Inc.
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8.4 Variation Occurs in the Internal Composition and Arrangement of Chromosomes
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Copyright © 2009 Pearson Education, Inc.
8.5 A Deletion Is a Missing Region of a Chromosome
Cri du chat Syndrome in Humans: segmental
deletion
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Copyright © 2009 Pearson Education, Inc.
Drosophila Heterozygous for Deficiencies May Exhibit Pseudodominance
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8.6 A Duplication Is a Repeated Segment of the Genetic Material
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Copyright © 2009 Pearson Education, Inc.
The Bar-Eye Mutation in Drosophila
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8.7 Inversions Rearrange the Linear Gene Sequence
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Copyright © 2009 Pearson Education, Inc.
Consequences of Inversions during Gamete Formation
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Copyright © 2009 Pearson Education, Inc.
8.8 Translocations Alter the Location of Chromosomal Segments in the Genome
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Copyright © 2009 Pearson Education, Inc.
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Copyright © 2009 Pearson Education, Inc.
Robertsonian translocation
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Translocations in Humans: Familial Down Syndrome
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8.9 Fragile Sites in Humans Are Susceptible to Chromosome Breakage
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Fragile X Syndrome (Martin–Bell Syndrome)
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