USMLE Step 1 Quiz
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GENETICS
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A 2-week-old male newborn has poor feeding, hypotonia, and failure to thrive. Physical exam shows hypogonadism and weak cry. Family history is unremarkable. Karyotype is 46,XY. Methylation analysis of 15q11-q13 shows only the maternal methylation pattern, consistent with loss of paternally expressed genes. The geneticist explains that imprinting affects transcription by methylation-dependent silencing of one parental allele. Which gene expression pathway alteration explains the phenotype?
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