**Core Concept**
Turner syndrome is a genetic disorder characterized by the partial or complete absence of one X chromosome, leading to a 45,X karyotype. This condition is often associated with short stature, wide-set nipples, and primary amenorrhea due to ovarian dysgenesis.
**Why the Correct Answer is Right**
The characteristic features of Turner syndrome are a result of the loss of one X chromosome, leading to the inactivation of the remaining X chromosome in most cells. This X inactivation process is known as Lyonization, where one of the two X chromosomes is randomly inactivated in each cell, leading to a mosaic pattern of X-inactive and X-active cells. The loss of one X chromosome also results in the underexpression of genes involved in ovarian development and function, leading to ovarian dysgenesis and primary amenorrhea.
**Why Each Wrong Option is Incorrect**
**Option A:** 47,XXY is the karyotype associated with Klinefelter syndrome, which is characterized by tall stature, infertility, and hypogonadism in males.
**Option B:** 46,XX is the normal female karyotype, which does not explain the short stature, wide-set nipples, and primary amenorrhea in this patient.
**Option C:** 45,X/46,XX is a mosaic karyotype that can be seen in some patients with Turner syndrome, but it is not the most likely karyotype in this patient with classical features of the condition.
**Clinical Pearl / High-Yield Fact**
Turner syndrome can be associated with a range of other clinical features, including cardiovascular abnormalities, hearing loss, and learning disabilities. Patients with Turner syndrome should be screened for these conditions and managed accordingly.
**Correct Answer: D. 45,X**
Free Medical MCQs · NEET PG · USMLE · AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.