ABMGG Clinical Genetics & Genomics Practice Questions - Clinical Genetics And Genomics (ABMGG) Exam

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A 3-year-old boy presents with intellectual disability, a long face, prominent ears, and macroorchidism. His mother is phenotypically normal but has premature ovarian insufficiency. Molecular testing in the mother shows 90 CGG repeats in the FMR1 gene. What is the mother's genetic status?

Full mutation carrier Premutation carrier Intermediate (gray zone) allele carrier Homozygous normal

Correct Answer:

Premutation carrier

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