ABGC Practice Test 1 – Questions With A+ Solutions
A 26year old woman comes for genetic counseling for presymptomatic testing
for Huntington disease (HD). Her psychiatrist has told the genetic counselor that the woman has an unstable living situation and is showing signs of depression. The woman told the psychiatrist that "she has no one." The woman is very emotional when she arrives at the counselor's office and demands HD testing. Which of the following is the BEST way to proceed with the session?
A. Explain being uncomfortable arranging her testing, and refer her to another
genetic counselor.
B. Discuss with the patient the statements that she made, and proceed with the protocol and testing as requested.
C. Proceed with testing because her depression may be an early manifestation of HD.
D. Acknowledge the patient's situation, and refer her for psychological services before proceeding. Correct Ans - D. Acknowledge the patient's
situation, and refer her for psychological services before proceeding.
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 Ans - 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 Ans - 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 Ans - 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 Ans - 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 Ans - 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?
A. Acknowledge the mother's concerns, but inform her it is the counselor'sobligation 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 Correct Ans - Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. Correct Ans - Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. FISH testing for 15q11 deletion was negative. The BEST next step in testing would be to draw blood from the affected individual, his mother, and which of the following other individuals?
A. I:1 and I:2 B. I:2 and I:4 C. II:2 and III:3 D. I:3 and III:3
A couple who are first cousins inquire about the chance of having a child affected with a genetic disorder. Their common maternal uncle has galactosemia. The chance that they will have child with galactosemia is Correct Ans - A. 1/8. B. 1/16. C. 1/36.
D. 1/64.
A 30yearold woman comes for genetic counseling to discuss her recent presymptomatic testing for Huntington disease (HD), which was negative. Her
mother was diagnosed with HD at age 36, and her deceased maternal grandmother was diagnosed with HD at age 40. Neither had DNA testing. Which of the following is MOST important to discuss with the woman?
A. Confirmatory DNA testing of her mother is needed.
B. Her mother and grandmother did not have HD.
C. She could still develop HD because of anticipation. D. She did not inherit the familial condition. Correct Ans - A. Confirmatory DNA testing of her mother is needed.
A pregnant woman is undecided about pursuing invasive testing. She asks, "If I
were your wife, what would you tell me to do?" The counselor replies, "I don't know what I would do, but I do know what concerns I would think about." Which of the following techniques BEST describes this response?
A. advice giving
B. directive guidance
A 26year old woman comes for genetic counseling for presymptomatic testing
for Huntington disease (HD). Her psychiatrist has told the genetic counselor that the woman has an unstable living situation and is showing signs of depression. The woman told the psychiatrist that "she has no one." The woman is very emotional when she arrives at the counselor's office and demands HD testing. Which of the following is the BEST way to proceed with the session?
A. Explain being uncomfortable arranging her testing, and refer her to another
genetic counselor.
B. Discuss with the patient the statements that she made, and proceed with the protocol and testing as requested.
C. Proceed with testing because her depression may be an early manifestation of HD.
D. Acknowledge the patient's situation, and refer her for psychological services before proceeding. Correct Ans - D. Acknowledge the patient's
situation, and refer her for psychological services before proceeding.
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 Ans - 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 Ans - 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 Ans - 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 Ans - 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 Ans - 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?
A. Acknowledge the mother's concerns, but inform her it is the counselor'sobligation 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 Correct Ans - Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. Correct Ans - Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. FISH testing for 15q11 deletion was negative. The BEST next step in testing would be to draw blood from the affected individual, his mother, and which of the following other individuals?
A. I:1 and I:2 B. I:2 and I:4 C. II:2 and III:3 D. I:3 and III:3
A couple who are first cousins inquire about the chance of having a child affected with a genetic disorder. Their common maternal uncle has galactosemia. The chance that they will have child with galactosemia is Correct Ans - A. 1/8. B. 1/16. C. 1/36.
D. 1/64.
A 30yearold woman comes for genetic counseling to discuss her recent presymptomatic testing for Huntington disease (HD), which was negative. Her
mother was diagnosed with HD at age 36, and her deceased maternal grandmother was diagnosed with HD at age 40. Neither had DNA testing. Which of the following is MOST important to discuss with the woman?
A. Confirmatory DNA testing of her mother is needed.
B. Her mother and grandmother did not have HD.
C. She could still develop HD because of anticipation. D. She did not inherit the familial condition. Correct Ans - A. Confirmatory DNA testing of her mother is needed.
A pregnant woman is undecided about pursuing invasive testing. She asks, "If I
were your wife, what would you tell me to do?" The counselor replies, "I don't know what I would do, but I do know what concerns I would think about." Which of the following techniques BEST describes this response?
A. advice giving
B. directive guidance
