A 39-year-old pregnant woman at 16 weeks gestation recently underwent a quad-screen which revealed elevated beta-hCG, elevated inhibin A, decreased alpha-fetoprotein, and decreased estradiol. An ultrasound was performed which found increased nuchal translucency. Which of the following is recommended for diagnosis?
ABiopsy and pathologic examination of fetus
BConfirmatory amniocentesis and chromosomal analysis of the fetal cells
CFetus is normal, continue with pregnancy as expected
DMaternal karyotype
ECell-free fetal DNA analysis
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 16-year-old girl presents with primary amenorrhea. On exam, you note that she is short and has a shield chest. You order abdominal imaging, which suggests the presence of streak gonads. Of the choices listed below, which of the following karyotypes is possible in this patient? I: 45,XO II: 45,XO/46,XX mosaicism III: 46,X,del(Xp) or other structural X abnormalities
AI and III
BI, II, and III
CII and III
DI and II
EI only
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