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Genomic Mutations or Heteroploidy or Numerical Aberrations: Aneuploidy

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Estimated time: 6 minutes
CISCE: Class 12

Definition: Aneuploidy

Aneuploidy is a chromosomal abnormality in which the chromosome number deviates from the normal multiple of the basic set due to the loss or gain of one or a few chromosomes, not the entire chromosome set.

CISCE: Class 12

Types of Aneuploidy

Aneuploidy Category Sub-type Chromosome Complement Key Features

Hypoploidy (Loss)

Hypoploidy is the loss of one or two individual chromosomes from the normal genome.

Monosomy 2n - 1 Loss of a single chromosome causes major genetic imbalance, generally not tolerated in diploids.
Nullisomy 2n - 2 Loss of a single pair of homologous chromosomes.

Hyperploidy (Addition)

Hyperploidy is the addition of one or more individual chromosomes to the diploid set.

Trisomy 2n + 1 Addition of one extra chromosome; highly useful for locating genes on specific chromosomes.
Tetrasomy 2n + 2 Addition of an extra pair of homologous chromosomes.
CISCE: Class 12

Key Points: Aneuploidy

  • Aneuploidy involves change in individual chromosomes, not whole sets.
  • Hypoploidy means loss of chromosomes.
  • Hyperploidy means gain of chromosomes.
  • Monosomy = 2n - 1; nullisomy = 2n - 2; trisomy = 2n + 1; tetrasomy = 2n + 2.
  • Trisomics are important in genetic studies because they help map genes to chromosomes.
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