Which of the following is the genetic makeup of a male with Klinefelter's syndrome?
A. 46 XX
B. 47 XXY
C. 47 XYY
D. 45 XXY
ANS: B
In males with Klinefelter's syndrome, physical examination reveals a lack of development of secondary sexual characteristics (small [less than 3 cm] atrophic testes, small phallus, diminished body hair, diminished muscle bulk), and feminine, or truncal, rather than male fat distribution that often includes gynecomastia. Patients will be tall due to a delay in the fusion of the epiphyseal plates in the long bones. Karyotype analysis will show 47 XXY or a mosaic 46 XY/47 XXY.
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