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    SubjectsMedicineBloom Syndrome (AR)
    ClinicalMedicine

    Bloom Syndrome (AR)

    1 MCQs in Medicine for NEET PG

    1 Medium
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    Sample Questions

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    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?

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