A 12-year-old girl with a recently diagnosed seizure disorder is brought to the physician by her mother for genetic counseling. She has difficulties in school due to a learning disability. Medications include carbamazepine. She is at the 95th percentile for height. Genetic analysis shows a 47, XXX karyotype. An error in which of the following stages of cell division is most likely responsible for this genetic abnormality?
APaternal meiosis, anaphase I
BMaternal meiosis, telophase II
CMaternal meiosis, metaphase II
DPaternal meiosis, metaphase II
EMaternal meiosis, anaphase II
A laboratory physician investigates the chromosomes of a fetus with a suspected chromosomal anomaly. She processes a cell culture obtained by amniocentesis. Prior to staining and microscopic examination of the fetal chromosomes, a drug that blocks cell division is added to the cell culture. In order to arrest chromosomes in metaphase, the physician most likely added a drug that is also used for the treatment of which of the following conditions?
ATrichomonas vaginitis
BTesticular cancer
CHerpes zoster
DPolycythemia vera
EAcute gouty arthritis
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
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