ABGC Board Prep Sample Questions With
Complete Solutions
1. A 1-week-old girl presents to clinic for follow up
after her newborn screen identified an isolated
elevation of propionylcarnitine (C3). The girl was
discharged from the well baby nursery on day of
life 2 after an uncomplicated delivery. She is
feeding well with no concerns. Follow-up testing
reveals low methionine, elevated methylmalonic
acid, and elevated homocysteine levels. The
patient and her mother both have a normal vitamin
B12 levels. Her biochemical testing is most
consistent with which of the following disorders?
a. Cobalamin C deficiency
b. Maternal B12 deficiency
c. Methylmalonyl-CoA mutase deficiency
d. Propionic acidemia Correct Answers a.
Cobalamin C deficiency
1. A liver biopsy is performed on the neonate in
question 19. Which of the following is most likely to
be seen on histology?
a. Large intracellular fat globules
b. Paucity of intrahepatic bile ducts
c. Portal lymphocytic infiltrates
d. Widespread hepatocellular necrosis Correct
Answers b. Paucity of intrahepatic bile ducts
,1. During a follow-up counseling session, the
patient's parents state that they are planning to
have additional children. Targeted parental testing
shows that patient's multi-exon deletion in DMD is
also present in his asymptomatic mother. Which of
the following is most correct regarding the
mother's recurrence risk of having a child with this
condition?
a. 25% chance of having an affected son
b. 50% chance of having an affected son
c. All daughters will be carriers
d. All sons will be affected Correct Answers a.
25% chance of having an affected son
1. The diagnosis of Cobalamin C deficiency is
confirmed on molecular testing. Which of the
following treatments should be initiated for this
patient?
a. Dietary restriction of galactose
b. Oral biotin supplementation
c. Oral thiamine supplementation
d. Subcutaneous hydroxocobalamin Correct
Answers d. Subcutaneous hydroxocobalamin
35 year old man has direct to consumer genetic
testing and learns that he is at increased risk for
prostate cancer above the general population risk.
,He talks to his parents and learns that several
members of his mother's family had early onset
colon cancer including his maternal grandfather
and uncle but there is no family history of prostate
cancer. Intrigued he asks his family doctor who
refers him for genetic counseling. The genetic
counselor discusses the link between prostate and
colon cancer. What type of testing would be most
helpful for this man?
a) BRCA testing
b) Familial adenomatous polyposis testing
c) Lynch syndrome testing
d) PTEN testing Correct Answers c) Lynch
syndrome testing
A 1-week-old girl is being evaluated because of
direct (conjugated) hyperbilirubinemia. An
echocardiogram shows pulmonic stenosis. Labs are
notable for a normal urine succinylacetone.
Ophthalmologic exam shows a right-sided posterior
embryotoxon. Which of the following is the most
likely diagnosis?
a. Alagille syndrome
b. Dubin-Johnson syndrome
c. Crigler-Najjar Type I
d. Tyrosinemia Type I Correct Answers a. Alagille
syndrome
, A 12-month-old girl presents to the clinic for an
evaluation. She has global developmental delay
and difficulty feeding. She is at the 5th percentile
for weight and height and at the 2nd percentile for
head circumference. She meets the clinical
diagnostic criteria for Angelman syndrome. DNA
methylation analysis at 15q11-q13 is sent and is
non-diagnostic. Which of the following is the next
best step in diagnosis?
a) Microsatellite studies
b) UBE3A gene sequencing
c) FISH
d) Maternal DNA methylation testing Correct
Answers B - UBE3A gene sequencing
A 18-month-old boy presents to the hospital with
inconsolability and swelling of the right thigh after
falling. Initial radiographs reveal a fracture of the
right femur and osteopenia. A follow-up skeletal
survey is notable for fractures of the left lateral
malleolus and right radius, as well as multiple
Wormian bones in the lambdoid suture. Labs reveal
normal serum alkaline phosphatase, calcium,
phosphate, and vitamin D. His height is at the 1st
percentile, while weight and head circumference
are at the 40th percentile. His social and verbal
development is as expected. Child protective
services has a low suspicion for non-accidental
trauma after a thorough evaluation. This patient is
Complete Solutions
1. A 1-week-old girl presents to clinic for follow up
after her newborn screen identified an isolated
elevation of propionylcarnitine (C3). The girl was
discharged from the well baby nursery on day of
life 2 after an uncomplicated delivery. She is
feeding well with no concerns. Follow-up testing
reveals low methionine, elevated methylmalonic
acid, and elevated homocysteine levels. The
patient and her mother both have a normal vitamin
B12 levels. Her biochemical testing is most
consistent with which of the following disorders?
a. Cobalamin C deficiency
b. Maternal B12 deficiency
c. Methylmalonyl-CoA mutase deficiency
d. Propionic acidemia Correct Answers a.
Cobalamin C deficiency
1. A liver biopsy is performed on the neonate in
question 19. Which of the following is most likely to
be seen on histology?
a. Large intracellular fat globules
b. Paucity of intrahepatic bile ducts
c. Portal lymphocytic infiltrates
d. Widespread hepatocellular necrosis Correct
Answers b. Paucity of intrahepatic bile ducts
,1. During a follow-up counseling session, the
patient's parents state that they are planning to
have additional children. Targeted parental testing
shows that patient's multi-exon deletion in DMD is
also present in his asymptomatic mother. Which of
the following is most correct regarding the
mother's recurrence risk of having a child with this
condition?
a. 25% chance of having an affected son
b. 50% chance of having an affected son
c. All daughters will be carriers
d. All sons will be affected Correct Answers a.
25% chance of having an affected son
1. The diagnosis of Cobalamin C deficiency is
confirmed on molecular testing. Which of the
following treatments should be initiated for this
patient?
a. Dietary restriction of galactose
b. Oral biotin supplementation
c. Oral thiamine supplementation
d. Subcutaneous hydroxocobalamin Correct
Answers d. Subcutaneous hydroxocobalamin
35 year old man has direct to consumer genetic
testing and learns that he is at increased risk for
prostate cancer above the general population risk.
,He talks to his parents and learns that several
members of his mother's family had early onset
colon cancer including his maternal grandfather
and uncle but there is no family history of prostate
cancer. Intrigued he asks his family doctor who
refers him for genetic counseling. The genetic
counselor discusses the link between prostate and
colon cancer. What type of testing would be most
helpful for this man?
a) BRCA testing
b) Familial adenomatous polyposis testing
c) Lynch syndrome testing
d) PTEN testing Correct Answers c) Lynch
syndrome testing
A 1-week-old girl is being evaluated because of
direct (conjugated) hyperbilirubinemia. An
echocardiogram shows pulmonic stenosis. Labs are
notable for a normal urine succinylacetone.
Ophthalmologic exam shows a right-sided posterior
embryotoxon. Which of the following is the most
likely diagnosis?
a. Alagille syndrome
b. Dubin-Johnson syndrome
c. Crigler-Najjar Type I
d. Tyrosinemia Type I Correct Answers a. Alagille
syndrome
, A 12-month-old girl presents to the clinic for an
evaluation. She has global developmental delay
and difficulty feeding. She is at the 5th percentile
for weight and height and at the 2nd percentile for
head circumference. She meets the clinical
diagnostic criteria for Angelman syndrome. DNA
methylation analysis at 15q11-q13 is sent and is
non-diagnostic. Which of the following is the next
best step in diagnosis?
a) Microsatellite studies
b) UBE3A gene sequencing
c) FISH
d) Maternal DNA methylation testing Correct
Answers B - UBE3A gene sequencing
A 18-month-old boy presents to the hospital with
inconsolability and swelling of the right thigh after
falling. Initial radiographs reveal a fracture of the
right femur and osteopenia. A follow-up skeletal
survey is notable for fractures of the left lateral
malleolus and right radius, as well as multiple
Wormian bones in the lambdoid suture. Labs reveal
normal serum alkaline phosphatase, calcium,
phosphate, and vitamin D. His height is at the 1st
percentile, while weight and head circumference
are at the 40th percentile. His social and verbal
development is as expected. Child protective
services has a low suspicion for non-accidental
trauma after a thorough evaluation. This patient is
