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Question

What happens if you have aneuploidy?


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Solution

Chromosomal disorders:

  1. They are genetic abnormalities caused by a change in one or more chromosomes or an aberrant chromosome layout.
  2. There are two types of chromosomal disorders: Aneuploidy an polyploidy.

Aneuploidy:

  1. The presence of an abnormal number of chromosomes in a cell.
  2. Chromosomal mutations, involve the addition or deletion of one or more chromosomes, resulting in an aberrant number of chromosomes in a cell.
  3. It can result in monosomy, trisomy, tetrasomy, and other abnormalities.
  4. They have the potential to induce genetic abnormalities, birth deformities, and illnesses.

Example of aneuploidy:

  1. Klinefelter syndrome is distinguished by the presence of 47 chromosomes rather than 46 due to an extra copy of the X chromosome.
  2. It could be caused by the non-disjunction of sex chromosomes during the development of either a male or female gamete.
  3. A person with Klinefelter syndrome is phenotypically male, with low testosterone levels, gynecomastia, diminished body, and facial hair, and a reduced or total inability to generate spermatozoa.

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