A member asked:

Can you tell me if down syndrome isn't genetic, why is it a genetic condition?

A doctor has provided 1 answer

Word games: Many people lump together chromosomal defects with gene disorders just because they can have similar appearance and or are studied by "geneticists". Ds is present when the patient has extra chromosome material (whole or part) of the 21 chromosome. A gene defect would be what causes cystic fibrosis, where a mutation in the ctfr gene triggers the abnormality.

Answered 3/7/2014

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