ABGC BOARDS EXAM PREP |ACTUAL QUESTIONS
AND VERIFIED ANSWERS|BRAND NEW 2026-2027
UPDATE|GRADED A+
Question 1
A 28-year-old individual (Alex) with a family history of cancer presents for an evaluation.
They are asymptomatic. The pedigree below is obtained during the visit. To better assess
Alex's risk of cancer, which of the following individuals should be tested FIRST?
A. II-3
B. II-7
C. III-1
D. III-5
CORRECT ANSWER
A. II-3
*General principle in cancer genetics: offer testing to unaffected relatives after identifying
the variant in an affected person.
*Any individual with MALE breast cancer (II-3) or early-onset breast cancer (<50 y)
warrants testing for HBOC. Should always test the closest affected relative. Female breast
cancer at an older age does not raise suspicion for HBOC, unless >=3 relatives affected on
the same side of the family
Question 2
Edith, a 30-year-old woman, presents for an evaluation. A genetic counselor takes a
pedigree, which is shown. Edith is indicated by the black arrow. Which of the following
statements is MOST accurate regarding this pedigree?
A. Edith's sister adopted Edith's biological son
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,B. Edith adopted her nephew
C. Edith is the surrogate mother for her nephew
D. Edith is the egg donor for her nephew
CORRECT ANSWER
B. Edith adopted her nephew
Question 3
Christy, a 32-year-old woman who is 10 weeks pregnant, presents with her wife Luna for
an evaluation. The couple used donor sperm and Luna's eggs to conceive the pregnancy.
Both women identify as cis-gendered. What is the best way to depict this relationship on a
pedigree?
CORRECT ANSWER
B (cisgender woman couple. The pregnancy was conceived using donor sperm and one
partner's egg. The non-donor partner is pregnant)
WRONG ANSWERS EXPLAINED:
A (cisgender woman couple. The pregnancy was conceived using donor sperm and egg)
C (cisgender woman couple using donor sperm. Unclear who is pregnant)
D (cisgender man and woman couple. A pregnancy was conceived using a donor egg and
the man's sperm (eg the woman underwent chemo))
Question 4
A woman with a family history of achondroplasia presents for prenatal visit at 10 weeks
gestation. A pedigree is obtained. Based on the information provided, her fetus is at
increased risk for which of the following classes of disorders relative to the general
population?
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@THE STUDY VAULT
,A. Skeletal dysplasia
B. Autosomal recessive disorder
C. Chromosomal aneuploidy
D. Imprinting disorder
CORRECT ANSWER
C. Chromosomal aneuploidy
*Increased risk with AMA
WRONG ANSWERS EXPLAINED:
A Skeletal dysplasia - acondroplasia is ~80% sporadic and 100% penetrant. Can assume the
33 yo sibling was sporadic and not inherited
B Autosomal recessive disorder (if consanguinity-marriage b/w 2 brothers and 2 sisters is
NOT consanguinity)
D Imprinting disorder - if history of IVF
Question 5
A woman presents with a family history of vision loss in early adulthood. The pedigree is
most suggestive of which type of inheritance pattern?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. Mitochondrial
CORRECT ANSWER
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@THE STUDY VAULT
, D. Mitochondrial - Leber's Hereditary Optic Neuropathy (LHON)
*Woman transmits to all children, men transmit to no children, vs AD inheritance where it
is 50% of children affected
Question 6
A 31-year-old man presents with his wife due to a family history of early deaths in his
brother and two nephews. Details about the cause of these deaths are unknown, as the
man is largely estranged from his family. The man recently immigrated from Greece. The
observed pattern of inheritance could be consistent with which disorders?
A. Glucose-6-phosphate dehydrogenase (G6PD) deficiency or Hemophilia C
B. Menkes disease or X-linked Severe Combined Immunodeficiency (SCID) C. Fragile X
syndrome or Rett syndrome
D. Thanatophoric dysplasia or Fabry disease
CORRECT ANSWER
B. Menkes disease or X-linked Severe Combined Immunodeficiency (SCID)
*Pedigree shows x-linked inheritance
WRONG ANSWERS EXPLAINED:
A (G6PD is XL, hemophilia C is AR
C Fragile X and Rett are not lethal in infancy. Rett is XLD, only in females or males w 47 XXY
D Thanatophoric dysplasia is AD and 100% penetrant
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@THE STUDY VAULT
AND VERIFIED ANSWERS|BRAND NEW 2026-2027
UPDATE|GRADED A+
Question 1
A 28-year-old individual (Alex) with a family history of cancer presents for an evaluation.
They are asymptomatic. The pedigree below is obtained during the visit. To better assess
Alex's risk of cancer, which of the following individuals should be tested FIRST?
A. II-3
B. II-7
C. III-1
D. III-5
CORRECT ANSWER
A. II-3
*General principle in cancer genetics: offer testing to unaffected relatives after identifying
the variant in an affected person.
*Any individual with MALE breast cancer (II-3) or early-onset breast cancer (<50 y)
warrants testing for HBOC. Should always test the closest affected relative. Female breast
cancer at an older age does not raise suspicion for HBOC, unless >=3 relatives affected on
the same side of the family
Question 2
Edith, a 30-year-old woman, presents for an evaluation. A genetic counselor takes a
pedigree, which is shown. Edith is indicated by the black arrow. Which of the following
statements is MOST accurate regarding this pedigree?
A. Edith's sister adopted Edith's biological son
1
@THE STUDY VAULT
,B. Edith adopted her nephew
C. Edith is the surrogate mother for her nephew
D. Edith is the egg donor for her nephew
CORRECT ANSWER
B. Edith adopted her nephew
Question 3
Christy, a 32-year-old woman who is 10 weeks pregnant, presents with her wife Luna for
an evaluation. The couple used donor sperm and Luna's eggs to conceive the pregnancy.
Both women identify as cis-gendered. What is the best way to depict this relationship on a
pedigree?
CORRECT ANSWER
B (cisgender woman couple. The pregnancy was conceived using donor sperm and one
partner's egg. The non-donor partner is pregnant)
WRONG ANSWERS EXPLAINED:
A (cisgender woman couple. The pregnancy was conceived using donor sperm and egg)
C (cisgender woman couple using donor sperm. Unclear who is pregnant)
D (cisgender man and woman couple. A pregnancy was conceived using a donor egg and
the man's sperm (eg the woman underwent chemo))
Question 4
A woman with a family history of achondroplasia presents for prenatal visit at 10 weeks
gestation. A pedigree is obtained. Based on the information provided, her fetus is at
increased risk for which of the following classes of disorders relative to the general
population?
2
@THE STUDY VAULT
,A. Skeletal dysplasia
B. Autosomal recessive disorder
C. Chromosomal aneuploidy
D. Imprinting disorder
CORRECT ANSWER
C. Chromosomal aneuploidy
*Increased risk with AMA
WRONG ANSWERS EXPLAINED:
A Skeletal dysplasia - acondroplasia is ~80% sporadic and 100% penetrant. Can assume the
33 yo sibling was sporadic and not inherited
B Autosomal recessive disorder (if consanguinity-marriage b/w 2 brothers and 2 sisters is
NOT consanguinity)
D Imprinting disorder - if history of IVF
Question 5
A woman presents with a family history of vision loss in early adulthood. The pedigree is
most suggestive of which type of inheritance pattern?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. Mitochondrial
CORRECT ANSWER
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@THE STUDY VAULT
, D. Mitochondrial - Leber's Hereditary Optic Neuropathy (LHON)
*Woman transmits to all children, men transmit to no children, vs AD inheritance where it
is 50% of children affected
Question 6
A 31-year-old man presents with his wife due to a family history of early deaths in his
brother and two nephews. Details about the cause of these deaths are unknown, as the
man is largely estranged from his family. The man recently immigrated from Greece. The
observed pattern of inheritance could be consistent with which disorders?
A. Glucose-6-phosphate dehydrogenase (G6PD) deficiency or Hemophilia C
B. Menkes disease or X-linked Severe Combined Immunodeficiency (SCID) C. Fragile X
syndrome or Rett syndrome
D. Thanatophoric dysplasia or Fabry disease
CORRECT ANSWER
B. Menkes disease or X-linked Severe Combined Immunodeficiency (SCID)
*Pedigree shows x-linked inheritance
WRONG ANSWERS EXPLAINED:
A (G6PD is XL, hemophilia C is AR
C Fragile X and Rett are not lethal in infancy. Rett is XLD, only in females or males w 47 XXY
D Thanatophoric dysplasia is AD and 100% penetrant
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@THE STUDY VAULT
