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3241 Pathology

A 20-year-old woman, G3, P2, has a screening ultrasound at 18 weeks’ gestation that shows hydrops fetalis but no malformations. The woman’s two previous pregnancies ended at term in live births. The current pregnancy results in a live birth at 36 weeks. Physical examination shows marked hydrops of the neonate and placenta. Laboratory studies show a cord blood hemoglobin level of 9.2 g/dL and total bilirubin concentration of 20.2 mg/dL. Which of the following laboratory findings is most likely to be present in this case?

ADiminished glucocerebrosidase activity in fetal cells
BElevated maternal serum a-fetoprotein level
CPositive Coombs test result on cord blood
DPositive maternal hepatitis B surface antigen
Pathology
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3242 Pathology

A 10 year old male, although mentally retarded, is able to carry out activities of daily living, including feeding and dressing himself. On physical examination, he has branchycephaly and oblique palpebral fissures with prominent epicanthal folds. On the palm of each hand is seen a transverse crease. On auscultation of the chest, there is a grade HUIV systolic murmur. Which of the following diseases will be most likely have by the age of 20 ?

AAcute leukemia
BHepatic cirrhosis
CChronic renal failure
DAcute myocardial infarction
Pathology
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