Name: Score:
99 Multiple choice questions
Term 1 of 99
A couple comes for genetic counseling because their daughter has congenital adrenal
hyperplasia (CAH). Which of the following would be the BEST strategy to minimize the possible
effects of CAH in future pregnancies?
BH4 supplementation
biotin therapy
cholesterol supplementation
dexamethasone therapy
Term 2 of 99
A 33yearold woman who is 20 weeks pregnant is referred for genetic counseling. Fetal ultrasound
showed caudal regression. Which of the following conditions is the woman MOST likely to have?
lupus
phenylketonuria
hypothyroidism
diabetes
Term 3 of 99
Which of the following is the MOST likely mechanism of tumor occurrence in patients who have
deleterious mutations in tumor suppressor genes?
alternative splicing
errors in DNA mismatch repair
hypermethylation
loss of function
,Definition 4 of 99
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?
II:2
II:4
III:1
III:3
Term 5 of 99
A woman comes for genetic counseling to discuss the prenatal diagnosis of trisomy 21 by
amniocentesis. She says that she feels "very alone" with this diagnosis. Which of the following is
the counselor's BEST initial response?
"Who has been supporting you during the pregnancy?"
"Have you spoken with a trisomy 21 support group?"
"What has your partner said about the diagnosis?"
"How has this situation been isolating for you?"
Term 6 of 99
A 50yearold woman tests negative for a familial mutation in the BRCA1 gene. She plans to discuss
ovary removal with her gynecologist because she believes her risks are still high. The genetic
counselor should clarify that the woman's lifetime risk of ovarian cancer is closest to
2%.
10%.
40%.
50%.
,Term 7 of 99
A 45yearold woman with premenopausal breast cancer comes for genetic counseling. She says
that her mother died of "abdominal cancer" at age 65 years. The patient has been estranged from
her family since several years before her mother's death and remembers only vague details about
her mother's illness. Which of the following is the MOST appropriate next step by the counselor to
establish the diagnosis in the mother?
Have the patient obtain her mother's death certificate.
Ask the patient to identify a family member who is more familiar with her mother's medical
history.
Note the cancer in her record and continue to facilitate recall of other family cancers.
Request the deceased woman's medical records from her treating physician because
consent is not required when a provider is the requestor.
Term 8 of 99
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?
autosomal recessive inheritance
de novo mutation
germline mosaicism
incomplete penetrance
, Term 9 of 99
When a supervisor and his student work collaboratively on a project with mutually agreedupon
objectives and the focus is on the student's clients, which of the following roles is the supervisor
using?
consultant
teacher
counselor
evaluator
Term 10 of 99
A woman who is 27 weeks pregnant has a fetal ultrasound that is suggestive of esophageal
atresia. This anomaly is an example of
disruption.
deformation.
sequence.
malformation.
Term 11 of 99
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?
comparative genomic hybridization
tumor cell karyotype
immunohistochemical staining
loss of heterozygosity
99 Multiple choice questions
Term 1 of 99
A couple comes for genetic counseling because their daughter has congenital adrenal
hyperplasia (CAH). Which of the following would be the BEST strategy to minimize the possible
effects of CAH in future pregnancies?
BH4 supplementation
biotin therapy
cholesterol supplementation
dexamethasone therapy
Term 2 of 99
A 33yearold woman who is 20 weeks pregnant is referred for genetic counseling. Fetal ultrasound
showed caudal regression. Which of the following conditions is the woman MOST likely to have?
lupus
phenylketonuria
hypothyroidism
diabetes
Term 3 of 99
Which of the following is the MOST likely mechanism of tumor occurrence in patients who have
deleterious mutations in tumor suppressor genes?
alternative splicing
errors in DNA mismatch repair
hypermethylation
loss of function
,Definition 4 of 99
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?
II:2
II:4
III:1
III:3
Term 5 of 99
A woman comes for genetic counseling to discuss the prenatal diagnosis of trisomy 21 by
amniocentesis. She says that she feels "very alone" with this diagnosis. Which of the following is
the counselor's BEST initial response?
"Who has been supporting you during the pregnancy?"
"Have you spoken with a trisomy 21 support group?"
"What has your partner said about the diagnosis?"
"How has this situation been isolating for you?"
Term 6 of 99
A 50yearold woman tests negative for a familial mutation in the BRCA1 gene. She plans to discuss
ovary removal with her gynecologist because she believes her risks are still high. The genetic
counselor should clarify that the woman's lifetime risk of ovarian cancer is closest to
2%.
10%.
40%.
50%.
,Term 7 of 99
A 45yearold woman with premenopausal breast cancer comes for genetic counseling. She says
that her mother died of "abdominal cancer" at age 65 years. The patient has been estranged from
her family since several years before her mother's death and remembers only vague details about
her mother's illness. Which of the following is the MOST appropriate next step by the counselor to
establish the diagnosis in the mother?
Have the patient obtain her mother's death certificate.
Ask the patient to identify a family member who is more familiar with her mother's medical
history.
Note the cancer in her record and continue to facilitate recall of other family cancers.
Request the deceased woman's medical records from her treating physician because
consent is not required when a provider is the requestor.
Term 8 of 99
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?
autosomal recessive inheritance
de novo mutation
germline mosaicism
incomplete penetrance
, Term 9 of 99
When a supervisor and his student work collaboratively on a project with mutually agreedupon
objectives and the focus is on the student's clients, which of the following roles is the supervisor
using?
consultant
teacher
counselor
evaluator
Term 10 of 99
A woman who is 27 weeks pregnant has a fetal ultrasound that is suggestive of esophageal
atresia. This anomaly is an example of
disruption.
deformation.
sequence.
malformation.
Term 11 of 99
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?
comparative genomic hybridization
tumor cell karyotype
immunohistochemical staining
loss of heterozygosity
