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Mosaicism in Neurogenetics
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Question 1
A clinically unaffected couple has a child with a severe de novo autosomal dominant skeletal dysplasia. Their second child is also affected. Which explanation best accounts for this recurrence?
A
Both parents are obligate carriers of an autosomal recessive form of the condition
B
The first child's mutation spontaneously recurred in the second child at an unusually high rate
C
One parent has germline (gonadal) mosaicism, with the pathogenic variant present in germ cells but absent or low-level in somatic tissues
D
The children share a common environmental teratogen that mimics the genetic phenotype
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