A woman is seen for genetic counseling because her three year old son was recently
diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the
diagnosis and the fact that she passed along this disease to her son. Her son's physician
has referred her to see a cardiologist...
ABGC Practice Quiz Questions and Answers
A woman is seen for genetic counseling because her three year old son was recently
diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the
diagnosis and the fact that she passed along this disease to her son. Her son's physician
has referred her to see a cardiologist on numerous occasions but she has not kept the
scheduled appointments. What is the best approach to take with this patient to
encourage her to see a cardiologist?
A) Tell her that she is being irresponsible and wasting the cardiologist's time by not
keeping her scheduled appointments
B) Discuss with her the reasons why she has not been able to keep her scheduled
appointments and provide support to encourage her to make keep her next appointment
C) Tell her that she is at risk for cardiac disease and that she must keep her appointment
D) Explain that if she wants to have more children it is important to maintain her own
health
o :## B
A 22 year old woman is referred to genetics clinic for evaluation of frequent nosebleeds
often occurring at night. In taking a family history, you learn her father has also
experienced recurrent nosebleeds and her paternal grandmother died from a stroke in her
50s. Upon exam, your patient was found to have telangiectases on her mouth and hands.
What diagnosis is most likely?
, 2024/2025 2|Page
A) Ataxia-telangiectasia
B) Hemophilia B
C) Hereditary Hemorrhagic Telangiectasia
D) Hereditary Hemochromatosis
o :## C
Please select the coping style which is best represented by the counselee: The genetic
counselor is meeting with a mother of a child with multiple congenital anomalies. After
her initial grief, she now states the child is a gift which will help her to become a stronger
person and allow her the opportunity to provide the best care and environment for a
child severe medical problems.
A) Accept responsibility
B) Distancing
C) Positive reappraisal
D) Seek social support
o :## C
A woman has an ultrasound evaluation that reveals the fetus has caudal regression.
Which of the following maternal conditions is most closely associated with this birth
defect?
, 2024/2025 3|Page
A) Epilepsy
B) High blood pressure
C) HIV
D) Type I diabetes
o :## D
A couple who are first cousins are seen for preconception genetic counseling to find out
about their chances of having a child with a genetic disease that runs in their family.
Their common maternal aunt has PKU. What is the chance that this couple will have a
child with PKU?
A) 1/9
B) 1/16
C) 1/36
D) 1/64
o :## C
A 30 year old man presents with fatigue and joint pain in his hands. During the
appointment a pedigree is constructed. Which of these statements about the family
history is most compelling for hereditary hemochromatosis?
A) The patient has a brother also has joint pain and fatigue
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