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Pathology Cytogenetic Disorders 2bdf89ae

Karyotype in Klinefelter's syndrome is?

A
47 XXY
B
45XO
C
46XXY
D
45XXX
High-Yield Explanation
ANSWER: (A) 47XXYREF: Harrison's 18th ed table 349-2 Genitalia DisorderCommon Chromosomal ComplementGonadExternalInternalBreastDevelopmentKlinefelter'ssyndrome47,XXY or 46.XY/47.XXYHyalinized testesMaleMaleGynecomastia Clinical Features Small testes, azoospermia, decreased facial and axillary hair, decreased libido, tall stature and increased leg length, decreased penile length, increased risk of breast tumors, thromboembolic disease, learning difficulties, obesity, diabetes mellitus, varicose veins

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