16-year-old girl with sho height, amenorrhea with widely spaced nipple. Karyotyping is;
**Core Concept**
Turner syndrome is a genetic disorder caused by the absence or partial deletion of one X chromosome in females. This results in a karyotype of 45,X0, characterized by short stature, amenorrhea, and other physical features.
**Why the Correct Answer is Right**
The karyotype of 45,X0 is diagnostic of Turner syndrome. This condition occurs due to the loss or non-disjunction of one X chromosome during meiosis, leading to a 45,X karyotype. The absence of one X chromosome affects the development of ovarian follicles and the production of sex hormones, resulting in amenorrhea and short stature. The widely spaced nipples are a common physical feature associated with Turner syndrome.
**Why Each Wrong Option is Incorrect**
**Option B:** The karyotype of 46,XO is not a recognized genetic disorder and does not accurately describe Turner syndrome.
**Option C:** The karyotype of 47,XXX is associated with Triple X syndrome, a condition characterized by tall stature, delayed puberty, and other physical features distinct from Turner syndrome.
**Option D:** The karyotype of 46,XY is a normal male karyotype and does not apply to this female patient.
**Clinical Pearl / High-Yield Fact**
Turner syndrome is a sex chromosome abnormality that affects approximately 1 in 2,500 female births. It is essential to recognize the characteristic physical features and karyotype of Turner syndrome to provide accurate genetic counseling and management.
✓ Correct Answer: A. 45 X0