Clinical Syndromes of Aneuploidy

question 1 of 34 course: Biomedical Science(Degree)
question 1 of 34 course: Biomedical Science(Degree)

Q: Which genetic disorder is caused by an extra copy of chromosome 21?

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Pulmonary squamous cell carcinoma with basaloid features shows small to medium-sized cells with high nuclear:cytoplasmic ratios, hyperchromatic nuclei, and scant cytoplasm, arranged in nests with peripheral palisading. The cells resemble basal cells of the bronchial epithelium. Keratinization may be minimal. This variant is aggressive and must be distinguished from small cell carcinoma (which has more molding, salt-and-pepper chromatin) and basaloid carcinoma of other origins. Immunohistochemistry (p40, p63 positive; TTF-1 negative) confirms squamous differentiation. Cytological diagnosis is challenging; cell blocks with IHC are helpful.

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