Which of the following conditions is due to an X-linked inheritance? Multiple Choice 16 ct 3 hemophilia diabetes Wilms tumor Beckwith-Wiedemann syndrome
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Case Study: Parents brought a 3-year-old boy to the pediatrician, who has excessive bleeding around the knees and elbows. The boy bleeds very easily when his skin is scratched, as noticed by the parents. Family history shows the presence of hemophilia in the mother's family. Physical examination reveals erythematous lesions, particularly around the knees and elbows, and purpura on the elbows. The detailed laboratory report is as below: Complete blood cell count: - Hemoglobin: 10.9 g/dL (normal: 13.4-17.4 g/dL) - Hematocrit: 32% (normal: 40%-54%) - Platelets: 200,000/mm3 (normal: 150,000-400,000/mm3) Coagulation Studies: - Platelets: 412 (normal: 150-440) - Prothrombin time: 12.5 sec (normal: 11-15 sec) - APTT (activated partial thromboplastin time): 42 sec (normal: 26.4-35 sec) - Bleeding time: 6 min (normal: 2-8 min) - Factor VIII: C level: 5% (normal: 25%-100%) - von Willebrand factor antigen: 145% (normal: 71%-210%) Questions related to the case study: Q1. Identify the disease diagnosed with its inheritance pattern. Q2. Discuss the defect with which these coagulation studies are linked. Q3. Explain in detail the pathophysiology of key symptoms with reference to the detailed pathway.
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