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    SubjectsPediatricsAtaxia-Telangiectasia
    ClinicalPediatrics

    Ataxia-Telangiectasia

    2 MCQs in Pediatrics for NEET PG

    2 Medium
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    Sample Questions

    medium

    A 6-year-old boy with progressive cerebellar ataxia, oculomotor apraxia, and oculocutaneous telangiectasias is evaluated for suspected Ataxia-Telangiectasia. Cytogenetic analysis of his lymphocytes reveals the karyotypic abnormality marked **B** in the diagram. Which of the following best explains the mechanism underlying this characteristic chromosomal finding?

    medium

    A 6-year-old boy with progressive cerebellar ataxia since age 18 months, bulbar and cutaneous telangiectasias, recurrent sinopulmonary infections, and markedly elevated serum alpha-fetoprotein (285 ng/mL) undergoes cytogenetic analysis of phytohemagglutinin-stimulated peripheral blood lymphocytes. The karyotype reveals the abnormality marked **A** in the diagram. Which of the following is the MOST appropriate next step in management?

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