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    SubjectsPediatricsDiGeorge syndrome 22q11.2 microdeletion
    ClinicalPediatrics

    DiGeorge syndrome 22q11.2 microdeletion

    1 MCQs in Pediatrics for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 6-week-old male infant presents with seizures (serum calcium 6.2 mg/dL, ionized 0.8 mmol/L) and a cardiac murmur consistent with tetralogy of Fallot. Dysmorphic features include micrognathia, hypertelorism, low-set posteriorly rotated ears, and a bifid uvula. Chest X-ray shows an absent thymic shadow, and flow cytometry reveals T-cell lymphopenia (CD3+ 800/μL, CD4+ 400/μL). FISH karyotype using the TUPLE1 probe shows the abnormality marked **C** in the diagram. Which of the following best explains the pathophysiology of this patient's constellation of findings?

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