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Anatomy · Embryology: ovotesticular disorder
Sample itemA child with ambiguous genitalia has an ovary on one side and an ovotestis on the other. Which karyotype is most common in this condition?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. 46,XX
Ovotesticular disorder of sex development is characterised by both ovarian and testicular tissue in one individual, and the most common karyotype is 46,XX. Some affected individuals carry SRY translocated to an X chromosome or have chimerism or mosaicism.
Option by option
A. 47,XXY
47,XXY is Klinefelter syndrome, with small firm testes and no ovarian tissue.
B. 46,XX (correct)
Correct. Most cases have a 46,XX karyotype.
C. 45,X
45,X is Turner syndrome with streak gonads.
D. 46,XY
A 46,XY karyotype is seen in a minority.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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