A 16-year-old presents to the primary care physician because he has noticed an increase in the size of his breast tissue over the past 3 years. He states that he is significantly taller than his entire class at school although he feels increasingly weak and uncoordinated. He performs at the bottom of his grade level academically. On physical exam the patient has marked gynecomastia with small firm testes. The physician decides to perform a karyotype on the patient. What is the most likely outcome of this test?
A47, XYY
B45, XO
C47, XXY
D47, XXX
E46, XY
A 19-year-old male from rural West Virginia presents to his family medicine doctor to discuss why he is having trouble getting his wife pregnant. On exam, he is 6 feet 2 inches with a frail frame and broad hips for a male his size. He is noted to have mild gynecomastia, no facial hair, and small, underdeveloped testes. He claims that although he has a lower libido than most of his friends, he does have unprotected sex with his wife. His past medical history is notable for developmental delay and difficulties in school. What is the most likely chromosomal abnormality in this patient?
ATrisomy 13
B45: XO
CTrisomy 21
D47: XYY
E47: XXY
A 14-year-old boy is brought to the physician by his parents for a well-child visit. The patient was born at 38 weeks' gestation via vaginal delivery and has been healthy. He attends a junior high school and is having difficulties keeping up with his classmates in many classes. He is at the 97th percentile for height and 50th percentile for weight. Vital signs are within normal limits. Cardiac examination shows a high-frequency midsystolic click that is best heard at the left fifth intercostal space. The patient has long extremities along with excess breast tissue bilaterally. He has no axillary hair. Genital examination shows reduced scrotal size and a normal sized penis. Which of the following tests is the most likely to diagnose the patient's underlying disorder?
AUrinalysis
BSouthern blot
CSlit-lamp examination
DKaryotyping
ESerum IGF-1 measurement
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