What are chromosomal disorders?

Dr. Jeanne Morrison, PhD
Family Practitioner

Chromosomal disorders are a group of conditions that occur through alterations of the chromosome. Each regular human cell contains 23 pairs of chromosomes for a total of 46 - except for our sperm and/or egg cells that have only 23 chromosomes in total. The chromosomes in your body all hold genetic codes for specific organs and functions. Most chromosomal disorders occur because of alterations affecting a specific chromosome in a regular cell or a sex cell. Such changes can include an extra chromosome, a deleted chromosome, or even a missing part of a chromosome.

Diana Meeks
Diana Meeks on behalf of Sigma Nursing
Family Practitioner

Chromosomal disorders are the result of an error in the number or structure of the chromosomes. Some examples of chromosomal disorders in humans are:

  • Down’s syndrome or trisomy 21: The individual has an extra chromosome 21.
  • Trisomy 18 or Edwards syndrome: The individual has an extra chromosome 18.
  • Trisomy 13 or Patau syndrome: The individual has an extra chromosome 13
  • Turner’s syndrome: Girls with Turner syndrome have one X chromosome and are missing all or part of the other X chromosome
  • Klinefelter syndrome: Boys with Klinefelter syndrome have two, or occasionally more, X chromosomes along with their Y chromosome.
  • Cri-du-chat (cat cry) syndrome: The individual is missing the short arm on chromosome 5
  • Prader-Willi syndrome: The individual has a deletion on chromosome 15.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.