1|Page
ABGC Practice 2025 Questions and Answers 100%
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 - ANSWER ✔✔-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? - ANSWER ✔✔-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 - ANSWER ✔✔-B. a woman who has t(14q;21q)
Created by Grace Amelia © 2025, All Rights Reserved.
,2|Page
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 - ANSWER ✔✔-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 - ANSWER ✔✔-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?
Created by Grace Amelia © 2025, All Rights Reserved.
, 3|Page
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 - ANSWER ✔✔-
Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. - ANSWER
✔✔-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
- ANSWER ✔✔-A. 1/8.
B. 1/16.
C. 1/36.
D. 1/64.
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?
Created by Grace Amelia © 2025, All Rights Reserved.
ABGC Practice 2025 Questions and Answers 100%
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 - ANSWER ✔✔-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? - ANSWER ✔✔-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 - ANSWER ✔✔-B. a woman who has t(14q;21q)
Created by Grace Amelia © 2025, All Rights Reserved.
,2|Page
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 - ANSWER ✔✔-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 - ANSWER ✔✔-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?
Created by Grace Amelia © 2025, All Rights Reserved.
, 3|Page
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 - ANSWER ✔✔-
Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. - ANSWER
✔✔-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
- ANSWER ✔✔-A. 1/8.
B. 1/16.
C. 1/36.
D. 1/64.
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?
Created by Grace Amelia © 2025, All Rights Reserved.
