Question

A 15-year-old girl presents with primary amenorrhoea (no periods by age 15) and short stature. On examination, she has a wide carrying angle, webbed neck, low posterior hairline, and widely spaced nipples. What is the most likely underlying chromosomal abnormality?

Accepted Answer

45, X (Turner syndrome)

Answer

47, XXY (Klinefelter syndrome)

Answer

Trisomy 21 (Down syndrome)

Answer

47, XXX (Triple X syndrome)

Answer

Fragile X syndrome

Practice question

A 15-year-old girl presents with primary amenorrhoea (no periods by age 15) and short stature. On examination, she has a wide carrying angle, webbed neck, low posterior hairline, and widely spaced nipples. What is the most likely underlying chromosomal abnormality?