Chromosome abnormalities

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Chromosome Abnormalities

Chromosome abnormalities are genetic disorders that occur due to an alteration in the number or structure of chromosomes.

Pronunciation

  • Chromosome: /ˈkrəʊməsəʊm/
  • Abnormalities: /ˌæbnɔːrˈmalɪtiz/

Etymology

The term 'chromosome' is derived from the Greek words 'chroma' meaning color and 'soma' meaning body. 'Abnormalities' is derived from the Latin 'abnormis' meaning departing from normal.

Description

Chromosome abnormalities can occur when there is a change in the number of chromosomes (known as aneuploidy) or a change in the structure of a chromosome through deletions, duplications, inversions, or translocations. These abnormalities can lead to a variety of genetic disorders, such as Down syndrome, Turner syndrome, and Klinefelter syndrome.

Types of Chromosome Abnormalities

Aneuploidy

Aneuploidy is a condition in which an organism has one or more extra or missing chromosomes. This can lead to a variety of genetic disorders, such as Down syndrome, which is caused by an extra copy of chromosome 21.

Structural Abnormalities

Structural abnormalities occur when the physical structure of a chromosome is altered. This can occur through deletions, duplications, inversions, or translocations. Examples of disorders caused by structural abnormalities include Cri-du-chat syndrome (deletion), Charcot-Marie-Tooth disease (duplication), and Philadelphia chromosome (translocation).

See Also

External links

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