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Teaching Cases
Case 1. 36-year old woman asks about genetic testing to assess breast cancer risk Case 2. Jewish woman asks about "the breast cancer gene" Case 3. College student asks about the breast cancer genetic test her mother had Case 4. Healthy young man whose father died of coronary heart disease at age 50 Case 5. 47-year-old man with a heart attack Case 6. 40-year-old woman who is overweight, with low HDL and borderline blood sugar Case 7. Resident receives a troubling phone call about peripheral neuropathy from a patient's relative Case 8. 42-year-old woman unaware of her family history of colorectal cancer Case 9. Colorectal cancer in a 28-year-old woman Case 10. Newborn boy with failed hearing screen Case 11. Parents seek reproductive counseling following the diagnosis of DFNB1-related hearing loss in their son Case 12. Failure to thrive: workup results in diagnosis of cystic fibrosis Case 13. Parents concerned about risk of having a child with CF Case 14. Suspected dementia in an 80-year-old woman Case 15. Cognitive difficulties in a 45-year-old man Case 16. 2-year-old boy with developmental delay Case 17. Sister with learning disability of unknown etiology Case 18. Newborn with 22q11.2 deletion syndrome Case 19. Question about a child participating in research related to type 1 diabetes mellitus Case 20. Family history of type 2 diabetes mellitus Case 21. 36-year-old woman offered prenatal diagnosis for Down syndrome Case 22. Down syndrome in a newborn Case 23. Young woman with a family history of Duchenne muscular dystrophy Case 24. Parent worried because his grandfather died of Huntington disease Case 25. Fatigue in a 47-year-old man Case 26. Patient with a question about hemochromatosis Case 27. 35-year-old man with a new diagnosis of Klinefelter syndrome: questions of paternity Case 28. 14-year-old boy: the clinical utility of a diagnosis of Klinefelter syndrome Case 29. Medullary thyroid cancer in a 40-year-old woman Case 30. Difficulties in family testing for a cancer syndrome Case 31. Family history of extra finger (polydactyly) Case 32. 30-year-old woman with postpartum hemorrhage Case 33. Renal failure in a 38-year-old woman Case 34. Sickle cell disease identified in newborn screening Case 35. Mother finds out that she and her son are sickle cell carriers Case 36. 1-year-old with hemoglobin E / beta-thalassemia Case 37. Recurrent miscarriaages after the birth of a healthy child Case 38. Carrier testing for individuals with Ashkenazi Jewish background Case 39. Two patients presenting to a walk-in clinic with symptoms of a blood clot Case 40. Does this child have neurofibromatosis? Case 41. A patient on warfarin asks about genetic testing