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Define aneuploidy. How is it different from polyploidy? Describe the individuals having followed chromosomal abnormalities.

a. Trisomy of 21st Chromosome

b. XXY

c. XO

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Aneuploidy is a condition in which gain or loss of chromosome is seen during the cell division due to the failure of chromatid segregation. On the other hand, an increase in the number of chromosome set caused due to the failure of cytokinesis after telophase is called polyploidy. This condition is mostly seen in plants and rarely seen in animals.

  1. Trisomy of 21st chromosome: First discovered and described by Langdon Down in 1866, it refers to the presence of an additional copy of 21st chromosome. It is known as Down’s syndrome. A person with this condition has a distinct facial appearance with partially opened mouth and small round head. Physical and mental development is delayed in such individuals.
  2. XXY: In this condition, a karyotype of 47 is caused due to an additional copy of the X chromosome. It is a genetic disorder and is called Klinefelter’s syndrome. In this case, three chromosomes (XXY) are present in the 23rd set of chromosomes. A person suffering from this disorder is sterile and has enlarged breasts (gynecomastia) with overall masculine development.
  3. XO: Lack of an X chromosome causes this genetic disorder of ploidy of 45 (XO). It is known as Turner’s syndrome. Such females have rudimentary ovaries and are sterile. Absence of secondary sexual characters is also seen.
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