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A Rare Triad: Pancytopenia and Hypothyroidism in a Genetically Confirmed Case of Trisomy 21

2025-08-08

Abstract excerpt

<title>Abstract</title> <p>Trisomy 21 (Down syndrome) is frequently associated with haematological and endocrine abnormalities. We report the case of a 16-year-old female with genetically confirmed non-mosaic Trisomy 21 who presented with fever, cough, and loose stools. Clinical features included short stature, obesity, and microcephaly. Laboratory investigations revealed pancytopenia with haemoglobin 4.5 g/dL, l...

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Literature Corpus work
fe6b1099-7b87-5bed-ab2e-ef03b0c6568f
DOI
10.21203/rs.3.rs-7150400/v1
Open publication

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A Rare Triad: Pancytopenia and Hypothyroidism in a Genetically Confirmed Case of Trisomy 21DOI 10.21203/rs.3.rs-7150400/v1
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