A 16-year-old girl is brought to the physician because she has not yet had her 1st period. She was born at 39 weeks gestation via spontaneous vaginal delivery. She is up to date on all vaccines and meeting all developmental milestones. She has no history of a serious illness and takes no medications. Physical examination shows underdeveloped breasts with scant pubic and axillary hair. Speculum examination shows a short vagina and no cervix. The remainder of the physical examination shows no abnormalities. Pelvic ultrasound shows no uterus. Which of the following is the most likely karyotype in this patient?
A47,XXY
B45,X
C46,XY
D46,XX/46,XY
E46,XX
A 5-year-old boy is brought to the physician because of behavioral problems. His mother says that he has frequent angry outbursts and gets into fights with his classmates. He constantly complains of feeling hungry, even after eating a full meal. He has no siblings, and both of his parents are healthy. He is at the 25th percentile for height and is above the 95th percentile for weight. Physical examination shows central obesity, undescended testes, almond-shaped eyes, and a thin upper lip. Which of the following genetic changes is most likely associated with this patient's condition?
AMitotic nondisjunction of chromosome 21
BMutation of FBN-1 gene on chromosome 15
CMicrodeletion of long arm of chromosome 7
DLoss of paternal gene expression on chromosome 15
EDeletion of Phe508 on chromosome 7
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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