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