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    SubjectsPathologyKaryotype — Cat Eye Syndrome Tetrasomy 22q11 Marker Chromosome
    Para-clinicalPathology

    Karyotype — Cat Eye Syndrome Tetrasomy 22q11 Marker Chromosome

    1 MCQs in Pathology for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 2-month-old female infant presents with anal atresia requiring urgent surgical intervention. On examination, she has a vertically elongated pupil with iris coloboma and bilateral preauricular skin tags. Cardiac evaluation reveals total anomalous pulmonary venous return (TAPVR). Karyotype analysis shows the presence of a small bisatellited supernumerary chromosome in addition to the normal chromosome 22 pair (47,XX,+mar). The structure marked **A** in the diagram represents this marker chromosome. Which of the following best describes the chromosomal composition and pathogenic mechanism underlying this patient's condition?

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