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Q: What is a genetic abnormality that is associated with a characteristic facial appearance cognitive impairment and physical abnormalities such as heart valve disease?
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Is a genetic variation that is associated with characteristic facial appearance learning disabilities and physical abnormalities such as heart valve disease.?

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What is the medical term meaning genetic abnormality that is associated with a characteristic facial appearance cognitive impairment and physical abnormalities such as heart valve disease?

Down's Syndrome (DS) is the most common chromosome abnormality in humans. The incidence is one out of every 691 babies born in the USA, and 95% of these are the Trisomy 21 (3rd copy of chromosome 21) type.Down's Syndrome is associated with particular facial characteristics, delayed growth, cognitive disability (average IQ of 50), and they have a higher risk for conditions such as heart valve defects (40% of all DS births).


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