Choose one disorder…what did you choose? __________________
Down syndrome
What causes it?
Down syndrome is caused by an error in cell division called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21
st chromosomes in either the sperm or the egg fails to separate during meiosis.
What are signs and symptoms of this disease?
- Mental retardation (IQ of 40)
- Decreased or poor muscle tone.
- Short neck, with excess skin at the back of the neck.
- Flattened facial profile and nose.
- Small head, ears, and mouth.
- Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye.
- Shorter lifespan
How is this diagnosed?
Down syndrome is usually diagnosed during pregnancy. If Down syndrome is not diagnosed during pregnancy, health care providers can usually diagnose Down syndrome based on the infant's appearance. In such cases, the diagnosis should be confirmed using a blood test that examines the child's chromosomes (karyotype).
How is this diagnosed?
Since it is a genetic disorder, it cannot be treated with medicine or surgery. Down Syndrome is treated differently based on their physical and intellectual needs. People with down syndrome are simply treated with care and respect.
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