A 16-year-old girl is brought to the pediatrician’s office by her mother. The mother expresses concerns about her daughter’s health because she has not achieved menarche. The daughter confirms this and, upon further questioning, denies any significant weight loss, changes in mood, or changes in her appetite. She denies being sexually active. She is a good student who works hard and enjoys competing in sports. She was born via spontaneous vaginal delivery at 39 weeks’ gestation. There were some discussions about mild birth defects, but her mother never followed up and cannot recall the specifics. Her vaccines are up to date, and she has met all developmental milestones. Her past medical history and family history are benign. Her pulse is 90/min, respirations are 17/min, blood pressure is 110/65 mm Hg, and temperature is 37.0deg C (98.6deg F). On physical examination, the patient is short in stature (5th percentile in height). Additionally, she has some excess skin on the neck and has a broad chest with widely spaced nipples. A urine pregnancy test is negative. Which of the following genetic abnormalities is the most likely cause of this patient’s condition? A. 45,X B. 45,XX, t(14;21) C. Trisomy 21 D. 47,XXY # 21-hydroxylase deficiency
[Verified Answer]: A 16-year-old girl is brought to the…
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