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DOWN SYDROME

DOWN SYDROME. By: Tiffany Lee, Jean Donohue and Luta Lipman. WHAT IS DOWN SYDROME?. Down syndrome is a genetic disorder where babies with an extra 21 st chromosome. This is due to a mistake in cell division during the development of the egg

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DOWN SYDROME

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  1. DOWN SYDROME By: Tiffany Lee, Jean Donohue and Luta Lipman

  2. WHAT IS DOWN SYDROME? • Down syndrome is a genetic disorder where babies with an extra 21stchromosome. • This is due to a mistake in cell division during the development of the egg • The disorder varies from person to person, the effect can be moderate all the way to severe learning disabilities depending on the person

  3. SYMPTOMS • The symptoms of down syndrome are: • Weakened muscles • Small ears • Irregular or crooked teeth that have grown in late • A single crease on the palm, often referred to as the simian line Here is an example of someone’s hand who has and doesn’t have down syndrome. The hand to the right clearly is the one with down syndrome, as you can see it has only one crease, the simian line.

  4. Here is an example of the chromosomes, if you were to have down syndrome. As you can see here there is an extra copy of the 21stchromosome.

  5. As you can see this little boy has down syndrome. You can recognize this by the size of his ears

  6. HOW IS DOWN SYNDROME DIAGNOSED? (INCLUDES FETAL DIAGNOSIS) • While the baby is in a womb, it is possible to check if it has down syndrome. There are two ways: • You can have screening or diagnostic testing. • If the disorder is not detected in the womb, doctors will be able to recognize the disorder by the baby’s distinct facial features. The diagnosis will be confirmed after a karyotype, which is the examination of the child’s chromosomes.

  7. TYPES OF DOWN SYNDROME • There are different types of down syndrome, the most common type is Trisomy 21, covering a whopping 95% of cases. This type of down syndrome is caused by a mistake in cell division before fertilization of the egg. • The least common form of down syndrome is Monsaicism, covering only 1-2% of cases. This rare form, also caused by a mistake in cell division. The difference between this form of down syndrome and Trisomy 21 is that the mistake happens AFTER fertilization of the egg. • The last type of down syndrome is Translocation, only a bit more common than Monsaicism. It covers 3-4% of cases. In this form, a part of chromosome 21 breaks off and attaches itself to another chromosome, typically it is the 14th chromosome. This causes all cells in the body to have an extra piece of chromosome 21. Out of all the other types of down syndrome this is the only one that is somewhat hereditary because one parent must be carrying chromosomal material that’s unusually arranged.

  8. TREATMENT/THERAPY • There is no cure for people affected by down syndrome but physical and/or speech therapy can help the patient develop a little more normal.

  9. DID YOU KNOW? • Sarah Palin’s youngest child, Trig has down syndrome. • Every 1 in 750 births, a child is born with down syndrome.(In the United States) • In 1983 someone who was diagnosed with down syndrome had an average of 25 years to live. Now that age has more than doubled to the age of 56

  10. THANK YOU AND I HOPE YOU ENJOYED OUR PRESENTATION! Credits Tiffany Lee Jean Donohue Luta Lipman

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