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Question

What diseases are caused by chromosomal abnormalities?


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Solution

Chromosomal abnormality:

  1. The change in the genetic material of the child that alters the development of the child before birth is known as a chromosomal abnormality.
  2. The most common type of chromosomal abnormality is known as aneuploidy.
  3. It could be an occurrence of one or more chromosomes or missing chromosomes

Examples of Aneuploidy:

  1. Normally humans have 46 chromosomes.
  2. In Klinefelter's Syndrome males have an extra copy of X chromosome(XXY). Total number of chromosomes becomes 47, it is referred to as trisomic.
  3. In Turner's syndrome a female is born with absence of a X chromosome (XO). Total number of chromosomes gets reduced to 45. It is referred to as monosomic.
  4. Down's syndrome is a chromosomal condition where the 21st chromosome have an extra copy. It is called trisomy 21, the individuals with down's syndrome have 47 chromosomes.

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