De novo or hereditary
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In some cases, the error occurred after the sperm has fertilized the egg.
This variant is called de novo, as a result of a new event such as the child’s birth, who is therefore the first in the family with this condition.
In other cases, patients with this syndrome have inherited the error from one of the two parents, usually the mother.
This is because some women are completely asymptomatic and unaware of carrying such an important mutation.