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Chromosomal Mutations

Chromosomal mutations can involve changes in chromosome structure like duplications, deletions, inversions, and translocations. These structural changes can impact the location of genes and alleles on chromosomes. Chromosomal mutations can also involve changes in chromosome number, such as aneuploidy caused by non-disjunction during meiosis resulting in conditions like Down syndrome from trisomy. Polyploidy is a condition where there are multiples of entire chromosome sets.

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37 views19 pages

Chromosomal Mutations

Chromosomal mutations can involve changes in chromosome structure like duplications, deletions, inversions, and translocations. These structural changes can impact the location of genes and alleles on chromosomes. Chromosomal mutations can also involve changes in chromosome number, such as aneuploidy caused by non-disjunction during meiosis resulting in conditions like Down syndrome from trisomy. Polyploidy is a condition where there are multiples of entire chromosome sets.

Uploaded by

sudhu suds
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Chromosomal Mutations

• Chromosome structure

• Variation in Chromosome structure


• Duplication
• Deletions
• Inversions
• Translocations

• Change in Chromosome number and sets


Chromosome structure
• Human Karyotype
• Groups A-G
• P and q arms
• centromere location
• banding patterns
Karyotypes
Variation in Chromosome structure
Duplication
Deletions
• terminal
• intercalary

• Pseudodominance
Cri cu chat
Inversions
Inversions
Paracentric inversion Pericentric inversion
Inversions
• Suppression of recombinant recovery
• Maintenance of a set of specific alleles at
adjacent loci
• Can lead to evolutionary advantage
Translocations
Meiosis
Familial Down syndrome
Change in Chromosome number
and sets
• Aneuploidy
• Non-disjunction
• Monosomy
• Trisomy
• Sex-chromosomes
• Polyploidy
Non-Disjunction
Monosomy & Trisomy
Trisomy and Triploid
Monosomy & Trisomy
Polyploidy

Multiples of same Multiples of


genome Different
genomes

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