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Cri Du Chat

Published on Nov 23, 2015

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PRESENTATION OUTLINE

CRI DU CHAT

BY: COLLIN B. AND JONATHAN M.

WHAT IT IS:

  • Rare genetic disorder that is caused by a deletion of a person's 5th chromosome.

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HOW IT'S INHERITED:

  • Possible to get it for parent who already has it.
  • Most commonly caused by random chromosomal break.

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DOMINANT CARRIERS:

  • In 80% of cases, the chromosome that carried the deletion comes from the father rather than the mom.

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SYMPTOMS:

  • Babies with disease are usually small and have respiratory problems.
  • People with disease may have small head, unusually round face, small chin, widely set eyes, folds over the eyes, and small bridge of the nose.

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STATISTICS:

  • Affects 1 in 20,000 people
  • 1 in 50,000 babies.
  • The life expectancy is the same as a regular person.

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OTHER NAMES:

  • French for "cry of the cat"
  • The disease is also named this because people with it can sometimes have a cat like cry.

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CURES/TREATMENTS:

  • No cure but treatment options.
  • Physical therapy
  • Speech therapy
  • Occupational therapy
  • Communication alternatives like sign language.

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HISTORY:

  • In 1963 Jerome Lejeune discovered Cri Du Chat.
  • He also discovered the cause of Down syndrome.

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EXTRA INFO.:

  • People it affects more are infants that are 8 months of age.
  • A baby can be tested for Cri du chat before birth.

SOURCES:

  • Chromosomal Mutations. eLibrary Science. Web. 19 Apr 2015.
  • "New Health Guide." Cri Du Chat Syndrome Facts. N.p., n.d. Web. 21 Apr. 2015.
  • "Cri-du-Chat Syndrome." Cri-du-Chat Syndrome. N.p., n.d. Web. 20 Apr. 2015.