ABGC BOARDS MAIN EXAM 2025/2026 QUESTIONS WITH
ANSWERS GRADED A+
✔✔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
C. nondirective counseling
D. nonjudgmental reflection - ✔✔C. nondirective counseling
✔✔Which of the following laboratory studies is MOST likely to confirm the diagnosis of
SmithLemliOpitz syndrome?
A. 15q1113 methylation analysis
B. isoelectric focusing of transferrin C. chromosomal microarray
D. 7dehydrocholesterol analysis - ✔✔D. 7dehydrocholesterol analysis
✔✔A couple whose child had a positive newborn screen for galactosemia is seen for
genetic counseling. Followup testing showed slightly reduced GALT enzyme activity,
gal1p and galactitol levels within normal limits, and one copy of the Q188R mutation in
the GALT gene. Which of the following is MOST important to discuss with the parents?
A. Explain that screening tests are not diagnostic.
B. Recommend the enzyme studies be repeated. C. Discuss the management of
galactosemia.
D. Describe the purpose of newborn screening. - ✔✔A. Explain that screening tests are
not diagnostic.
✔✔A 45yearold man with colon cancer comes for genetic counseling. In conjunction
with microsatellite instability testing, which of the following tests done on his colon tumor
would be MOST helpful in deciding about testing for germline Lynch syndrome
mutations?
A. comparative genomic hybridization B. tumor cell karyotype
C. immunohistochemical staining
D. loss of heterozygosity - ✔✔C. immunohistochemical staining
✔✔Discussion of artificial insemination with donor sperm is MOST appropriate for
couples who have a
A. daughter with cleft lip and palate.
,B. daughter with limb girdle muscular dystrophy. C. son with Becker muscular
dystrophy.
D. son with KearnsSayre syndrome. - ✔✔B. daughter with limb girdle
✔✔A 43yearold woman seeks genetic counseling because of a recent diagnosis of
endometrial cancer. Her family history includes a maternal grandmother with breast
cancer at age 56, father with colorectal cancer at age 47, and one paternal aunt with
ovarian cancer at age 49. Counseling regarding testing for which of the following
syndromes is MOST appropriate?
A. familial adenomatous polyposis
B. hereditary breast and ovarian cancer
C. hereditary nonpolyposis colorectal cancer
D. PTEN hamartoma tumor syndrome - ✔✔C. hereditary nonpolyposis colorectal cancer
✔✔A 2yearold child with developmental delay is newly diagnosed as having
RubinsteinTaybi syndrome. The mother continues to keep the child's medical
appointments but tells the genetic counselor that she does not believe the diagnosis.
Which of the following is the BEST strategy for the counselor to pursue?
A. Refer the mother to a support group to meet with other families.
B. Emphasize the positive aspects of the diagnosis with the mother.
C. Review the medical findings to convince the mother of the diagnosis.
D. Allow the mother time to come to terms with the diagnosis at her own rate. - ✔✔D.
Allow the mother time to come to terms with the diagnosis at her own rate.
✔✔DNA testing for cystic fibrosis (CF) in a 25yearold Caucasian woman is negative.
The test is able to identify 90% of CF carriers. The chance that the woman is a carrier is
closest to
A. 1/50.
B. 1/100.
C. 1/250.
D. 1/500. - ✔✔C. 1/250
✔✔B. II:4 - ✔✔A 30yearold woman with a family history of breast cancer comes to the
genetics
clinic for BRCA1 and BRCA2 testing. Her family history is shown below.
To clarify the woman's risk, which of the following individuals should be tested FIRST?
A. II:2 B. II:4
C. III:1 D. III:3
, ✔✔A 37yearold woman comes to the clinic for amniocentesis at 16 weeks gestation.
Fetal karyotype shows an extra de novo marker chromosome derived from
chromosome 22. The fetus may be at risk for which of the following syndromes?
A. cateye syndrome
B. velocardiofacial syndrome
C. PallisterKillian syndrome
D. RussellSilver syndrome - ✔✔A. cateye syndrome
✔✔A 2yearold boy is being evaluated in the genetics clinic because of a dilated aortic
root. Comprehensive testing of FBN1 showed no abnormalities. Discovery of which of
the following features would be consistent with the MOST likely diagnosis?
A. bifid uvula
B. microtia
C. horseshoe kidney
D. polydactyly - ✔✔A. bifid uvula
✔✔A 4yearold girl is referred to the genetics clinic to be evaluated because she may
have fragile X syndrome. During the appointment, the patient's mother provides
information on the family history. Which of the following statements about her daughter's
family history is MOST suggestive of fragile X syndrome?
A. "Her maternal grandmother went through menopause early."
B. "Her paternal grandfather and his brother have tremors."
C. "Her father completed the 9th grade and then dropped out." D. "Her maternal uncle
has a son with autism." - ✔✔A. "Her maternal grandmother went through menopause
early."
✔✔A pregnant woman whose son has ornithine transcarbamylase (OTC) deficiency
comes for genetic counseling. A detailed ultrasound at 18 weeks shows a normal
female fetus. Which of the following is the MOST important information to collect to
assess risk in the current pregnancy?
A. results of her partner's carrier testing
B. maternal symptoms of hyperammonemia
C. orotic acid and ammonia levels in her son
D. maternal diet history - ✔✔B. maternal symptoms of hyperammonemia
✔✔A couple comes for genetic counseling because of advanced maternal age. The
counselor notes that the father of the pregnancy has a large vertical scar on his upper
lip. While taking the family history, the counselor asks both individuals if either has a
history of birth defects, and they deny any such history. Which of the following is the
BEST next step for the counselor to take?
A. Inquire again about the history of birth defects on both sides of the family, using cleft
lip as an example
ANSWERS GRADED A+
✔✔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
C. nondirective counseling
D. nonjudgmental reflection - ✔✔C. nondirective counseling
✔✔Which of the following laboratory studies is MOST likely to confirm the diagnosis of
SmithLemliOpitz syndrome?
A. 15q1113 methylation analysis
B. isoelectric focusing of transferrin C. chromosomal microarray
D. 7dehydrocholesterol analysis - ✔✔D. 7dehydrocholesterol analysis
✔✔A couple whose child had a positive newborn screen for galactosemia is seen for
genetic counseling. Followup testing showed slightly reduced GALT enzyme activity,
gal1p and galactitol levels within normal limits, and one copy of the Q188R mutation in
the GALT gene. Which of the following is MOST important to discuss with the parents?
A. Explain that screening tests are not diagnostic.
B. Recommend the enzyme studies be repeated. C. Discuss the management of
galactosemia.
D. Describe the purpose of newborn screening. - ✔✔A. Explain that screening tests are
not diagnostic.
✔✔A 45yearold man with colon cancer comes for genetic counseling. In conjunction
with microsatellite instability testing, which of the following tests done on his colon tumor
would be MOST helpful in deciding about testing for germline Lynch syndrome
mutations?
A. comparative genomic hybridization B. tumor cell karyotype
C. immunohistochemical staining
D. loss of heterozygosity - ✔✔C. immunohistochemical staining
✔✔Discussion of artificial insemination with donor sperm is MOST appropriate for
couples who have a
A. daughter with cleft lip and palate.
,B. daughter with limb girdle muscular dystrophy. C. son with Becker muscular
dystrophy.
D. son with KearnsSayre syndrome. - ✔✔B. daughter with limb girdle
✔✔A 43yearold woman seeks genetic counseling because of a recent diagnosis of
endometrial cancer. Her family history includes a maternal grandmother with breast
cancer at age 56, father with colorectal cancer at age 47, and one paternal aunt with
ovarian cancer at age 49. Counseling regarding testing for which of the following
syndromes is MOST appropriate?
A. familial adenomatous polyposis
B. hereditary breast and ovarian cancer
C. hereditary nonpolyposis colorectal cancer
D. PTEN hamartoma tumor syndrome - ✔✔C. hereditary nonpolyposis colorectal cancer
✔✔A 2yearold child with developmental delay is newly diagnosed as having
RubinsteinTaybi syndrome. The mother continues to keep the child's medical
appointments but tells the genetic counselor that she does not believe the diagnosis.
Which of the following is the BEST strategy for the counselor to pursue?
A. Refer the mother to a support group to meet with other families.
B. Emphasize the positive aspects of the diagnosis with the mother.
C. Review the medical findings to convince the mother of the diagnosis.
D. Allow the mother time to come to terms with the diagnosis at her own rate. - ✔✔D.
Allow the mother time to come to terms with the diagnosis at her own rate.
✔✔DNA testing for cystic fibrosis (CF) in a 25yearold Caucasian woman is negative.
The test is able to identify 90% of CF carriers. The chance that the woman is a carrier is
closest to
A. 1/50.
B. 1/100.
C. 1/250.
D. 1/500. - ✔✔C. 1/250
✔✔B. II:4 - ✔✔A 30yearold woman with a family history of breast cancer comes to the
genetics
clinic for BRCA1 and BRCA2 testing. Her family history is shown below.
To clarify the woman's risk, which of the following individuals should be tested FIRST?
A. II:2 B. II:4
C. III:1 D. III:3
, ✔✔A 37yearold woman comes to the clinic for amniocentesis at 16 weeks gestation.
Fetal karyotype shows an extra de novo marker chromosome derived from
chromosome 22. The fetus may be at risk for which of the following syndromes?
A. cateye syndrome
B. velocardiofacial syndrome
C. PallisterKillian syndrome
D. RussellSilver syndrome - ✔✔A. cateye syndrome
✔✔A 2yearold boy is being evaluated in the genetics clinic because of a dilated aortic
root. Comprehensive testing of FBN1 showed no abnormalities. Discovery of which of
the following features would be consistent with the MOST likely diagnosis?
A. bifid uvula
B. microtia
C. horseshoe kidney
D. polydactyly - ✔✔A. bifid uvula
✔✔A 4yearold girl is referred to the genetics clinic to be evaluated because she may
have fragile X syndrome. During the appointment, the patient's mother provides
information on the family history. Which of the following statements about her daughter's
family history is MOST suggestive of fragile X syndrome?
A. "Her maternal grandmother went through menopause early."
B. "Her paternal grandfather and his brother have tremors."
C. "Her father completed the 9th grade and then dropped out." D. "Her maternal uncle
has a son with autism." - ✔✔A. "Her maternal grandmother went through menopause
early."
✔✔A pregnant woman whose son has ornithine transcarbamylase (OTC) deficiency
comes for genetic counseling. A detailed ultrasound at 18 weeks shows a normal
female fetus. Which of the following is the MOST important information to collect to
assess risk in the current pregnancy?
A. results of her partner's carrier testing
B. maternal symptoms of hyperammonemia
C. orotic acid and ammonia levels in her son
D. maternal diet history - ✔✔B. maternal symptoms of hyperammonemia
✔✔A couple comes for genetic counseling because of advanced maternal age. The
counselor notes that the father of the pregnancy has a large vertical scar on his upper
lip. While taking the family history, the counselor asks both individuals if either has a
history of birth defects, and they deny any such history. Which of the following is the
BEST next step for the counselor to take?
A. Inquire again about the history of birth defects on both sides of the family, using cleft
lip as an example
