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    SubjectsPediatricsPedigree — Tay-Sachs Disease Ashkenazi Carrier
    ClinicalPediatrics

    Pedigree — Tay-Sachs Disease Ashkenazi Carrier

    1 MCQs in Pediatrics for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 28-year-old Ashkenazi Jewish couple presents for genetic counseling prior to conception. Carrier screening reveals that both partners are heterozygous for HEXA gene mutations. The pedigree diagram shows that **C** represents the expected proportion of affected children per pregnancy if both parents are carriers. What is the most appropriate counseling point regarding the risk of Tay-Sachs disease in their offspring, and what is the recommended next step?

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