1 MCQs in Medicine for NEET PG
A 12-year-old girl presents with 8 café-au-lait macules >5 mm, axillary freckling (Crowe sign), and two cutaneous neurofibromas, meeting NIH diagnostic criteria for neurofibromatosis type 1 (NF1). Her father has only a few café-au-lait spots and Lisch nodules on slit-lamp examination. Her paternal grandmother had a plexiform neurofibroma and optic pathway glioma. The pedigree shown (marked **B**) demonstrates vertical transmission across three generations with every obligate carrier showing some manifestation of the disease, yet the severity ranges from minimal skin findings to disfiguring tumors. Which of the following best describes the genetic phenomenon illustrated by this pedigree pattern marked **B**?
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