A 32-year-old man of Japanese descent presents with premature aging, short stature (148 cm), premature graying, alopecia, and bilateral cataracts since age 27. He has scleroderma-like skin changes, spindly limbs, non-healing ulcers, myocardial infarction at age 30, type 2 diabetes mellitus, and hypogonadism. His parents are first cousins. Karyotype analysis of cultured skin fibroblasts reveals the finding marked **B** in the diagram. Sequencing confirms biallelic WRN gene mutations. Which of the following best describes the cytogenetic abnormality marked **B** that is pathognomonic for this condition?
Ready to test yourself?
Test your Medicine knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Werner Syndrome MCQs with AI-powered explanations tailored to your performance.
Create Free Account