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Nondisjunction happens when chromosomes are distributed incorrectly during egg or sperm formation. People with Down syndrome have distinct facial features: a flat face, a small broad nose, abnormally shaped ears, a large tongue, and upward-slanting eyes with small folds of skin in the corners. People with Down syndrome have an increased risk of developing a number of medically significant problems, including respiratory infections, gastrointestinal tract obstruction (blocked digestive tract), leukemia, heart defects, hearing loss, hypothyroidism, and eye abnormalities.

Because of these medical problems, most people with Down syndrome have a decreased life expectancy.
Two types of tests check for Down syndrome during pregnancy: screening and diagnostic tests.
In 90% of Trisomy 21 cases, the additional chromosome comes from the mother's egg rather than the father's sperm.

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