An 11-year-old boy presents to your clinic after 4 months of pain and swelling in his thigh. His mother states that at first she thought his condition was due to roughhousing, but it hasn’t gone away and now she’s concerned. You perform an X-ray that shows an ‘onion skin’ appearance on the diaphysis of the femur. You are concerned about a malignancy, so you perform a PET scan that reveals lung nodules. Which of the following is most associated with this disease?
ADefective mitochondrial DNA
BNonsense mutation to DMD gene
Ct(11;22) translocation
Dt(9;22) translocation
ERb loss of function mutation
A 3-year-old male child is found to have a disease involving DNA repair. Specifically, he is found to have a defect in the endonucleases involved in the nucleotide excision repair of pyrimidine dimers. Which of the following is a unique late-stage complication of this child's disease?
ATelangiectasia
BColorectal cancer
CMalignant melanoma
DLymphomas
EEndometrial cancer
A 7-year-old girl is brought to the physician by her mother because of a 5-day history of fever, fatigue, and red spots on her body. Her temperature is 38.3°C (101.1°F), pulse is 115/min, and blood pressure is 100/60 mm Hg. Physical examination shows pallor and petechiae over the trunk and lower extremities. Laboratory studies show a hemoglobin concentration of 7 g/dL, a leukocyte count of 2,000/mm3, a platelet count of 40,000/mm3, and a reticulocyte count of 0.2%. Peripheral blood smear shows normochromic, normocytic cells. A bone marrow aspirate shows hypocellularity. Which of the following is the most likely cause of this patient's findings?
AIdiopathic thrombocytopenic purpura
BAplastic anemia
CAcute lymphoblastic leukemia
DMultiple myeloma
EPrimary myelofibrosis
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