FRCPath Haem Part 1 MCQ-Gen Haem 179

A 4yr-old pt presents with rec infections, short stature, and steatorrhea. Bone marrow is hypocellular. Genetic tests awaited. Characteristic of this disesease?

• Defect in DNA repair leading to chromosomal breakage
• pure red cell aplasia
• Telomerase complex mutation causing short telomeres
• exocrine pancreatic insufficiency

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