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Subjects/Pathology/Chromosomal Abnormalities
Chromosomal Abnormalities
medium
microscope Pathology

A 25-year-old male presents with infertility, small testes, gynecomastia, and tall stature. Karyotyping is performed. Which of the following karyotypes is most consistent with his clinical presentation?

A. A. 47, XXY
B. B. 45, X
C. C. 46, XY, del(5p)
D. D. 47, XY, +21

Explanation

The constellation of symptoms including infertility, small testes (testicular atrophy), gynecomastia, and tall stature in a male is characteristic of Klinefelter syndrome. This condition is caused by the presence of an extra X chromosome, resulting in a karyotype of 47, XXY. Option B (45, X) represents Turner syndrome, which affects females. Option C (46, XY, del(5p)) represents Cri-du-chat syndrome. Option D (47, XY, +21) represents Down syndrome in a male.

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