Neurogenetics Curriculum
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Evaluating Developmental Delay, ID & Autism
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Question 1
A healthy non-consanguineous couple's only child has severe ID from a confirmed de novo pathogenic variant. They ask about the chance a future child would be affected. The most accurate counseling is:
A
Essentially 0% — de novo variants do not recur
B
25%, following autosomal recessive inheritance
C
Low but not zero — empirically around ~1%, because of possible parental gonadal mosaicism
D
50%, because the variant is dominant
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