A 6-year-old boy of Ashkenazi Jewish descent presents with severe growth retardation (height and weight <3rd percentile), a long narrow face with prominent nose, and a sun-sensitive erythematous telangiectatic rash in a butterfly distribution over the malar regions. He has recurrent upper respiratory infections and café-au-lait spots. His pedigree shows an affected younger sister, unaffected non-consanguineous parents, and no affected ancestors. Cytogenetic analysis reveals a dramatically increased rate of sister chromatid exchanges (approximately 10-fold higher than normal) and quadriradial chromosome figures. The inheritance pattern shown in the pedigree (marked **A** in the diagram) is consistent with which of the following genetic mechanisms?
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 Bloom Syndrome (AR) MCQs with AI-powered explanations tailored to your performance.
Create Free Account