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Down Syndrome

Published on Nov 19, 2015

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PRESENTATION OUTLINE

DOWN SYNDROME

THE MOST COMMON CHROMOSOME DISORDER AND GENETIC CAUSE OF RETARDATION.

CAUSE:
It occurs because of the presence of an extra copy of chromosome 21, and a person would have it at birth.

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SYMPTOMS

  • Flat nose bridge
  • Extra folds around upward slanted eyes
  • Quiet and less responsive
  • Weak, floppy muscles
  • Shorter than normal.
  • Small head and mouth
  • Overly flexible
  • 30-50% have heart defects
  • 5-7% have a malformed gastrointestinal track

DIAGNOSIS

  • Suspected at birth
  • Genetic testing is done to verify (usually done with a blood sample)
  • Pregnant women over 35 are offered prenatal tests, 75% miscarry with this

There is no treatment available to cure Down Syndrome.

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PROGNOSIS

  • W/out heart defects 90% of patients live into their teens.
  • Seems to age more quickly
  • Average age of death is about 50-55 years.
  • 60% of women with Down syndrome are capable to have kids (their babies have a 50% rate of getting Down syndrome, as well).

OTHER INFORMATION.

  • Occurs in 1 out of 800 births.
  • Equal amount of males and females.
  • Higher chance for older women to have a child with Down syndrome, than younger women.
Photo by Andrew Czap

SOURCE CITATIONS.

  • Johnson, Paul A. "Down syndrome." The Gale Encyclopedia of Genetic Disorders. Ed. Stacey L. Blachford. Vol. 1. Detroit: Gale, 2002. 348-353. Gale Virtual Reference Library. Web. 28 May 2015.
  • "Down Syndrome." Human Diseases and Conditions. Ed. Miranda Herbert Ferrara. 2nd ed. Vol. 2. Detroit: Charles Scribner's Sons, 2010. 557-561. Gale Virtual Reference Library. Web. 28 May 2015.