**Core Concept**
Turner syndrome is a genetic disorder in females characterized by the absence of one X chromosome, resulting in a karyotype of 45,X. This condition leads to various physical and developmental abnormalities, including short stature, infertility, and heart defects.
**Why the Correct Answer is Right**
Turner syndrome is specifically associated with a karyotype of 45,X, which means the individual has only one X chromosome instead of the usual two. This single X chromosome is usually inherited from the mother, who is typically a mosaic carrier of the 45,X karyotype. The 45,X karyotype leads to a deficiency in the production of sex hormones, particularly estrogen, resulting in the characteristic physical and developmental features of Turner syndrome.
**Why Each Wrong Option is Incorrect**
**Option A:** 46,XX - This is the normal female karyotype and is not associated with Turner syndrome.
**Option B:** 47,XXX - This is a different chromosomal disorder known as trisomy X, where there are three X chromosomes instead of two.
**Option C:** 45,X/46,XX - This is a mosaic karyotype, where some cells have 45,X and others have 46,XX. While mosaic Turner syndrome can occur, it is not a classic or typical karyotype for the condition.
**Clinical Pearl / High-Yield Fact**
Turner syndrome is often associated with a variety of cardiovascular anomalies, including bicuspid aortic valve, coarctation of the aorta, and hypertension. Patients with Turner syndrome require regular cardiac evaluation and management to prevent long-term cardiovascular complications.
**Correct Answer: A. 46,XX**
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