ABGC Practice 2024 (Guaranteed Pass!)

A 13yearold girl comes to the genetics clinic because of frequent nosebleeds. When taking the family history, which of the following is the MOST important for the genetic counselor to elicit? A. gastrointestinal bleeds B. varicose veins C. hearing loss D. renal carcinoma correct answers A. gastrointestinal bleeds 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. Which of the following is the counselor's BEST response to the woman's request? correct answers C. Offer genetic counseling to discuss new developments and resources. Which of the following individuals has the greatest risk of having a child with Down syndrome? A. a man who has t(14q;21q) B. a woman who has t(14q;21q) C. a woman who is 35 years old D. a woman who has a child with trisomy 21 correct answers B. a woman who has t(14q;21q) A pregnant woman has an ultrasound that identifies a lumbar meningomyelocele in the fetus. Which of the following exposures is MOST closely associated with this birth defect? A. tetracycline B. lithium C. phenytoin D. valproic acid correct answers D. valproic acid Ultrasonography of a 26yearold woman at 16 weeks gestation shows fetal findings consistent with osteogenesis imperfecta, type II. The woman had a previous fetus affected with the same condition. The woman and her husband are healthy and have no obvious clinical characteristics of osteogenesis imperfecta. Which of the following is the MOST likely explanation for this recurrence? A. autosomal recessive inheritance B. de novo mutation C. germline mosaicism D. incomplete penetrance correct answers C. germline mosaicism A 15yearold 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?