| source,author,question | |
| https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/,sjblease,"A woman who was evaluated and diagnosed with facioscapulohumeral (FSH) muscular dystrophy 10 years ago calls to request general information to share with her new husband and his family. The couple is considering starting a family in the near future. What is the counselor's BEST response to the woman's request?" | |
| https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/,sjblease,"During the pre-authorization process, the genetic counselor learns that the patient will have to pay for follow-up molecular testing out of pocket and can afford testing for only two genes. In addition to MLH1, which genes should be tested to identify the causative mutation?" | |
| https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/,sjblease,"A 38-year-old woman is referred during her first trimester for genetic counseling. Her female partner accompanies her to this visit. The pregnancy was conceived using donor sperm. How is this reproductive scenario indicated when drawing the pedigree?" | |
| https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/,sjblease,"A 15-year-old girl at 21 weeks gestation comes with her mother to the genetic counselor because the fetus has gastroschisis. The patient's mother insists that the birth defect is incompatible with life and that she should terminate the pregnancy, but the patient says she wants to keep the baby. However, the patient says that she might terminate the pregnancy if the counselor says the chances of the fetus surviving are poor. The mother becomes agitated when the counselor states that the birth defect is often compatible with life. She accuses the counselor of undermining her authority as the mother. Which of the following is the BEST response by the counselor? | |
| A. Acknowledge the mother's concerns, but inform her it is the counselor's obligation to provide accurate information. | |
| B. Ask the mother to leave so the counselor can speak with the daughter alone. | |
| C. Call the daughter after the session at a time when the mother is not at home. | |
| D. Leave the room for a short time, and allow private discussion between the mother and her daughter." | |
| https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/,sjblease,"A 4-year-old boy is referred to a genetics clinic because he has calf hypertrophy and trouble rising from the floor when seated. His creatine kinase level is 10,000 U/L. Which of the following is the BEST initial method to determine his diagnosis? | |
| A. dystrophin immunohistochemistry on muscle tissue | |
| B. dystrophin deletion/duplication analysis followed by sequencing | |
| C. Western blot analysis for dystrophin on muscle tissue | |
| D. FISH analysis for deletion/duplication detection" | |