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168235 Pathology

A 25-year-old man with a history of autism and mental retardation is seen by a genetic counselor. The man has coarse facial features, an increased head circumference, and macro-orchidism. His maternal uncle is similarly affected. After further evaluation, a diagnosis of fragile X syndrome is rendered. What is the most likely underlying cause of this patient’s genetic disease?

AChromosomal nondisjunction
BChromosome inversion
CExpansion of trinucleotide repeat
DFrame-shift mutation
Pathology
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