Down syndrome

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Down syndrome

• Gillie Strauss

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Down Syndrome

• Scientifically named trisomy 21
• Better known as Down Syndrome

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Nondisjunction

• Number 21 chromosomes fails to separate during
  the formation of an egg or sperm
• this is referred to as nondisjunction
• that egg joins with a normal sperm to form an
  embryo. the embryo ends up with three copies of
  chromosome 21 instead of the normal two
• Sex-linked recessive
• It occurs in approximately one in every 800 live
  births.

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Symptoms and detection of Down Syndrome

• low muscle tone
• a single crease across the palm of the hand
• a slightly flattened facial profile and an
  upward slant to the eyes.
• It is not known why this occurs. However, it is
  known that the error occurs at conception and is
  not related to anything the mother did during
  pregnancy
• screening tests and diagnostic tests can be done.
• The screening tests estimate the risk of the
  baby having Down syndrome. Diagnostic tests tell
  whether or not the baby actually has Down
  syndrome.

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Prognosis

• People with Down syndrome typically live to about
  55 years or longer in the US
• Down syndrome has no cure.

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Additional Health Problems

• Trisomy 21 is when one has an additional 21st
  chromosome.
• This is what causes complications in the genes.
• congenital heart defects can be a problem, too
• People with DS are prone to developing pulmonary
  hypertension (high blood pressure in the lungs).

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Treatment

• Down syndrome has no known cure.
• Surgery to correct heart defects and other
  related antibiotic therapy for persistent
  infections have improved life expectancy.
• Plastic surgery is occasionally done to correct
  the characteristic facial traits
• Benefits beyond improved appearance may include
  improved speech, reduced susceptibility to dental
  caries, and fewer orthodontic problems later.
• Most patients with Down syndrome are now cared
  for at home and attend special education classes.

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Current Research

• Scientists are testing to find how the extra
  chromosome 21 affects individuals with Down
  syndrome.
• Researchers use mice, and people with down
  syndrome to try to understand the behavior.
• Researchers are looking for treatment through
  these observations

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Growth of Down syndrome fetus
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Down syndrome
Down syndrome. Many people have it. But they live
normal lives just like you.
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• http//www.nads.org/pages_new/facts.html
• http//learn.genetics.utah.edu/units/disorders/wha
  taregd/
• http//www.wrongdiagnosis.com/d/down_syndrome/trea
  tments.htm
• http//www.mhdsa.org/ResearchCurrent.htm
• http//www.kidshealth.org/parent/medical/genetic/d
  own_syndrome.html