Medical Genetics Step 1 QBank
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A woman has a miscarriage of a female fetus, and DNA from the fetus is sent for chromosome analysis. The geneticist looking at the chromosomes notes that there is no Y chromosome, and only one X chromosome which is made of the two long arms of the X chromosomes. Which of the following explains this finding?CorrectIncorrect
The pregnant mother of a 6-year-old daughter with sickle cell anemia is very worried that her fetus will have the disease. The mother has no history of vaso-occlusive crisis or anemia. The father of the children is also clinically normal. Which of the following is true of the recurrence risk for the present pregnancy?CorrectIncorrect
The deceased child in the pedigree suffered from an autosomal recessive gene defect. If the incidence of the disease phenotype in this general population is 1 in 250,000, what is the chance the sister will have an affected child?CorrectIncorrect
A four-year-old girl is brought to the pediatrician because of obesity and moderate mental retardation. The parents report that she was hypotonic at birth and they now have to lock the refrigerator to stop her from eating continuously. The physician suspects a deletion, but a FISH test is normal. What is the next most likely explanation for this condition?CorrectIncorrect