A 12-year-old girl has the sudden onset of severe abdominal pain and back pain. On physical examination her abdomen is diffusely tender, but there are no masses. She is afebrile. A CBC shows Hgb 6.5 g/dL, Hct 19.0%, MCV 99 fL, platelet count 149,000/microliter, and WBC count 11,200/microliter. Examination of her peripheral blood smear shows nucleated RBCs and sickled RBCs. Which of the following types of gene mutation is she most likely to have? O Insertion • Missense O Nonsense O Splice site O Duplication O Deletion.

Case Studies In Health Information Management
3rd Edition
ISBN:9781337676908
Author:SCHNERING
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Chapter5: Compliance
Section: Chapter Questions
Problem 5.5.1C
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A 12-year-old girl has the sudden onset of severe abdominal pain and back pain. On physical examination her abdomen is diffusely tender, but there are no masses. She is afebrile. A CBC shows Hgb 6.5 g/dL, Hct 19.0%, MCV 99 fL, platelet count 149,000/microliter, and WBC count 11,200/microliter. Examination of her peripheral blood smear shows nucleated RBCs and sickled RBCs. Which of the following types of gene mutation is she most likely to have?

O Insertion

• Missense

O Nonsense

O Splice site

O Duplication

O Deletion.  

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