Turner syndrome – kary oty ping is-
Turner syndrome typically has a karyotype of 45,X or 45,XO. That means there's a single X chromosome instead of the usual XX. The other options might include other chromosomal abnormalities like Down syndrome (47,XX+21 or XY+21), Klinefelter syndrome (47,XXY), or others like 47,XYY. So the correct answer should be 45,X or 45,XO.
The user's options are labeled A to D, but they're empty. However, since Turner syndrome is XO, the correct karyotype is 45,X. The other options would be incorrect because they relate to different conditions. For example, Klinefelter is XXY, Down is trisomy 21, and others. The clinical pearl here is that Turner syndrome is the only condition with monosomy X. I need to structure the explanation with the required sections, making sure to cover all parts concisely.
**Core Concept**
Turner syndrome is a chromosomal disorder caused by complete or partial absence of one X chromosome in females. The classic karyotype is 45,X (monosomy X), though mosaicism (e.g., 45,X/46,XX) occurs in ~50% of cases. It leads to ovarian dysgenesis, short stature, and other physical abnormalities.
**Why the Correct Answer is Right**
The correct karyotype for Turner syndrome is **45,X** (or 45,XO), indicating a single X chromosome instead of the typical 46,XX. This monosomy results in defective gonadal development, hypogonadism, and characteristic features like webbed neck and lymphedema. The absence of one X chromosome disrupts genes critical for growth and sexual development.
**Why Each Wrong Option is Incorrect**
**Option A:** Likely refers to 47,XXY (Klinefelter syndrome), which causes male hypogonadism but not Turner features.
**Option B:** Could be 47,XY+21 (Down syndrome), a trisomy with intellectual disability and distinct facial features.
**Option C:** Might suggest 47,XYY (Jacob syndrome), associated with tall stature and infertility but no Turner traits.
**Option D:** Possibly 46,XX/46,XY (normal female/male karyotypes), which lack Turner-related abnormalities.
**Clinical Pearl / High-Yield Fact**
Turner syndrome is the only human monosomy compatible with life. Always associate 45,X with short stature, ovarian failure, and cardiovascular anomalies (e.g., bicuspid aortic valve). Distinguish it from Klinefelter (XXY) and trisomies (21, 18, 13).
**Correct Answer: C. 45,X**