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I only
20%
48/243
I and II
31%
76/243
I and III
6%
15/243
I, II, and III
36%
88/243
II and III
3%
8/243
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This patient is affected by Turner syndrome (TS). While 45XO is the most common karyotype in TS, mosaicism and 46XX with partial deletion and inactivation are possible alternative genotypes. This patient presented with short stature, shield chest, and primary amenorrhea with streak gonads, which is highly suggestive of TS. While TS is classically described as the absence of one X chromosome (45XO), there are other karyotypes that may be associated with the disorder. The various genotypes are united by the common characteristics of the syndrome, which result from the absence or hypofunctionality of the second sex X chromosome. Incorrect Answers: Answers 1-3 and 5: These choices are incorrect because all of the listed genotypes can result in the TS phenotype.
3.5
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