Question

A woman brings her 16-year-old daughter to a physician because she has not yet begun menstruating. Although her parents are both 1.75 meters, the patient is 1.5 meters and has always been below the 50th percentile in height. Physical examination reveals no breast development. She has no problems in school and is of normal intelligence. What is the most likely underlying basis for her condition?

A. A 45,X karyotype
B. A balanced reciprocal translocation
C. A balanced Robertsonian translocation
D. Two Barr bodies
E. Deletion of an imprinted locus

Answer 1

The most likely underlying basis for the patient's condition is Turner syndrome, specifically a 45,X karyotype. This condition is characterized by the presence of only one sex chromosome (X instead of XX or XY), resulting in short stature, webbed neck skin, hearing and cardiac impairments, and sterility.

Step-by-step explanation:

The most likely underlying basis for the patient's condition is A. A 45,X karyotype, also known as Turner syndrome. This condition is characterized by the presence of only one sex chromosome (X instead of XX or XY) and can result in short stature, webbed skin in the neck region, hearing and cardiac impairments, and sterility. The patient's lack of breast development and below-average height align with the symptoms of Turner syndrome.