A 19-year-old female with sho stature, wide spread nipples and primary amenorrhea most likely has a karyotype of: (AI 2003)
**Core Concept**
Turner syndrome is a genetic disorder characterized by the presence of one X chromosome and the absence of the second sex chromosome, typically leading to short stature, wide-set nipples, and primary amenorrhea. This condition is often associated with various physical and developmental abnormalities.
**Why the Correct Answer is Right**
The correct answer, **45 X0**, represents the typical karyotype of an individual with Turner syndrome. This karyotype denotes the presence of only one X chromosome, resulting from the absence of the second sex chromosome. The lack of a second sex chromosome leads to various developmental and physical abnormalities, including short stature, wide-set nipples, and primary amenorrhea. Individuals with Turner syndrome often exhibit a range of physical characteristics, including a short neck, low-set ears, and a webbed neck.
**Why Each Wrong Option is Incorrect**
**Option A:** 47, XX + 18 represents the karyotype of an individual with Edwards syndrome, characterized by the presence of an extra copy of chromosome 18. This condition is distinct from Turner syndrome and is not associated with the specific physical and developmental abnormalities described in the question.
**Option B:** 46, XXY represents the karyotype of an individual with Klinefelter syndrome, characterized by the presence of an extra X chromosome in males. This condition is distinct from Turner syndrome and is not associated with the specific physical and developmental abnormalities described in the question.
**Option C:** 47, XXY represents an error in karyotype notation, as the correct notation for Klinefelter syndrome is 47, XXY.
**Clinical Pearl / High-Yield Fact**
Turner syndrome is a genetic disorder that affects approximately 1 in 2,500 live-born females. Individuals with Turner syndrome are at increased risk of developing various medical conditions, including cardiovascular abnormalities, hearing loss, and thyroid dysfunction.
**Correct Answer:**
✓ Correct Answer: D. 45 X0