Genes work with probabilities; they don't work with certainties. So most things that you're looking at with these genetic tests, it's not like you're condemned to automatically get the disease or the syndrome. There's a lot of factors in play there.
All human beings are, in fact, born with dozens of mutations their parents lacked, and a few of those mutations could well be lethal if we didn't have two copies of every gene, so one can pick up the slack if the other malfunctions.
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