Genetic Counseling Boards Review Questions
2023/ 165 Question and Answers / Graded A+
LMNA G608G - -A young patient (5yrs) presents for the first time to a new dentist with
crowded teeth, making them very hard to clean. In further exploration of the issue, she
learns that the child had delayed eruption of his teeth. The patient's mother also relays
that her pediatrician has several times noted how prominent the veins of his scalp are
and his short stature. However, she thinks that this is just part of the spectrum seen in
their family given that she herself is quite short and has fair skin, making it easier to see
her veins. You speak with the dentist who isn't sure whether or not to refer the family.
You are most concerned about what mutation:
LMNA G1138A
LMNA G608G
FGFR3 Exon 11 deletion
FGFR3 G608G
-ii, iii - -The current prenatal screening test used in your clinic has a sensitivity of 96%
and a specificity of 89%. In speaking to representatives from the lab, you learn that they
want to adjust their reading of this test by increasing the cutoff levels. Which of the
following effects would you expect to see if this change was implemented?
i. Increase sensitivity
ii. Increase specificity
iii. Decrease false positives
iv. Decrease false negatives
-None of the above are reasons that MTHFR testing should be conducted - -Which of
the following scenarios would MTHFR testing be appropriate?
a. Recurrent pregnancy loss
b. Thrombophilia, in the presence of negative primary thrombophilia testing
c. Open neural tube defect identified on prenatal ultrasound, despite adequate folic acid
intake
,d. Patients about to start a methotrexate chemotherapy regimen
e. none of the above
-c - -Genetic drift is an exception of which of the following assumptions of Hardy
Weinberg:
a. No mutation
b. No migration
c. Population is infinitely large
d. Random mating
-Marfan Syndrome (utility of testing influenced by physical evaluation) - -For which
indication would telehealth service delivery model be inappropriate?
Breast cancer
Marfan Syndrome
Carrier screening
Cascade testing
-1/100
--With incidence of disease in AJ being 1/1000, man's carrier risk is about 1/18
--Woman's risk of being a carrier is 2/3 since her parents are obligate carriers and she is
not affected
-- ⅔ x ½ x 1/18 x ½ = 1/108 = ~1/100 - -A couple is seen for preconception counseling.
The woman's brother has Gaucher disease, and she has Ashkenazi Jewish ancestry
(Gaucher disease incidence of 1 in 1,000). Before doing any genetic testing, which of the
following is closest to the risk of the couple having an affected child?
1/50
1/100
1/150
1/200
-c. Missense mutation in EDA1 *The condition being described is hypohidrotic
ectodermal dysplasia which is most often caused by EDA1 mutations. - -You are
,meeting a 3 year old little boy in the pediatric genetics clinic. His parents were referred
to the clinic by his astute dentist who mentioned he did not have as many teeth as
expected. On meeting the boy, you also note he has sparse hair. His parents also tell you
he tends to get overheated when he plays outside. Based on these findings, what is the
most likely genetic cause of his signs and symptoms?
a. Missense mutation in IKBKG
b. Deletion in OCA2
c. Missense mutation in EDA1
*The condition being described is hypohidrotic ectodermal dysplasia which is most
often caused by EDA1 mutations.
d. Translocation interrupting SPRED1
-b. Countertransference *The GC is displaying countertransference as she is
transferring her feelings and experiences with RP in her friend onto the client/the
family. - -A genetic counselor in the ophthalmology clinic is meeting with a family who
have a 12 year old son recently diagnosed with retinitis pigmentosa. Throughout the
appointment, the patient's father makes disparaging remarks about blindness and his
son being handicapped. The genetic counselor finds herself to be annoyed and angry
with the father. The genetic counselor has a good friend with RP and she can't help but
think about him as she talks with the family. What best describes the behavior and
feelings of the genetic counselor?
a. Transference
b. Countertransference
c. Resistance
d. Resentment
-c. 12.5%
Alport syndrome can be XLR, AD or AR. However, the most common form and the form
consistent with the pedigree is XLR. This means for the woman's mom, there is a 50%
chance she is a carrier. She has a 50% chance of passing on that X to the patient. The
patient has a 50% chance of passing that onto the future child. Note, that because it's X
linked, females with the condition may or may not manifest in symptoms.
, ½ * ½ *½ = ⅛ or 12.5% - -You are meeting with a 30 year old woman to discuss a
family history of reported Alport syndrome. She is hoping to start a family in the near
future and wishes to know her risk to have a child with the condition. After taking the
family history, you notice that only males are affected and there is no male-male
transmission. The patient's maternal uncle is affected. Based on this family history, what
is the highest recurrence risk you would quote for this patient to have a child with Alport
syndrome?
a. 50%
b. 25%
c. 12.5%
d. Less than 1%
-b. Lisch nodules. Learning disabilities and ADHD can be seen in Legius and NF1, lisch
nodules are the most common clinic sign of NF1 and do not occur in NF2 or Legius,
polydactyly is a key feature of any of these conditions - -A 12 year old female is referred
to genetics after her PCP finds 5 café au lait spots on physical exam. She also has
freckling in her armpits. Which of the following clinical findings would be most helpful
for diagnosing her?
a. Learning disability
b. Lisch nodules
c. ADHD
d. Polydactyly
-c. If she has ocular telangiectasias. Ocular telangiectasias and ataxia are features of AT
and help distinguish this condition from ataxia with oculomotor apraxia - -A 15 year old
female is referred to genetics for ataxia. Which of the following clinical findings would
be most helpful for diagnosing her?
a. Oculomotor apraxia
b. If she currently uses a wheelchair
c. If she has ocular telangiectasias
d. When her ataxia began
2023/ 165 Question and Answers / Graded A+
LMNA G608G - -A young patient (5yrs) presents for the first time to a new dentist with
crowded teeth, making them very hard to clean. In further exploration of the issue, she
learns that the child had delayed eruption of his teeth. The patient's mother also relays
that her pediatrician has several times noted how prominent the veins of his scalp are
and his short stature. However, she thinks that this is just part of the spectrum seen in
their family given that she herself is quite short and has fair skin, making it easier to see
her veins. You speak with the dentist who isn't sure whether or not to refer the family.
You are most concerned about what mutation:
LMNA G1138A
LMNA G608G
FGFR3 Exon 11 deletion
FGFR3 G608G
-ii, iii - -The current prenatal screening test used in your clinic has a sensitivity of 96%
and a specificity of 89%. In speaking to representatives from the lab, you learn that they
want to adjust their reading of this test by increasing the cutoff levels. Which of the
following effects would you expect to see if this change was implemented?
i. Increase sensitivity
ii. Increase specificity
iii. Decrease false positives
iv. Decrease false negatives
-None of the above are reasons that MTHFR testing should be conducted - -Which of
the following scenarios would MTHFR testing be appropriate?
a. Recurrent pregnancy loss
b. Thrombophilia, in the presence of negative primary thrombophilia testing
c. Open neural tube defect identified on prenatal ultrasound, despite adequate folic acid
intake
,d. Patients about to start a methotrexate chemotherapy regimen
e. none of the above
-c - -Genetic drift is an exception of which of the following assumptions of Hardy
Weinberg:
a. No mutation
b. No migration
c. Population is infinitely large
d. Random mating
-Marfan Syndrome (utility of testing influenced by physical evaluation) - -For which
indication would telehealth service delivery model be inappropriate?
Breast cancer
Marfan Syndrome
Carrier screening
Cascade testing
-1/100
--With incidence of disease in AJ being 1/1000, man's carrier risk is about 1/18
--Woman's risk of being a carrier is 2/3 since her parents are obligate carriers and she is
not affected
-- ⅔ x ½ x 1/18 x ½ = 1/108 = ~1/100 - -A couple is seen for preconception counseling.
The woman's brother has Gaucher disease, and she has Ashkenazi Jewish ancestry
(Gaucher disease incidence of 1 in 1,000). Before doing any genetic testing, which of the
following is closest to the risk of the couple having an affected child?
1/50
1/100
1/150
1/200
-c. Missense mutation in EDA1 *The condition being described is hypohidrotic
ectodermal dysplasia which is most often caused by EDA1 mutations. - -You are
,meeting a 3 year old little boy in the pediatric genetics clinic. His parents were referred
to the clinic by his astute dentist who mentioned he did not have as many teeth as
expected. On meeting the boy, you also note he has sparse hair. His parents also tell you
he tends to get overheated when he plays outside. Based on these findings, what is the
most likely genetic cause of his signs and symptoms?
a. Missense mutation in IKBKG
b. Deletion in OCA2
c. Missense mutation in EDA1
*The condition being described is hypohidrotic ectodermal dysplasia which is most
often caused by EDA1 mutations.
d. Translocation interrupting SPRED1
-b. Countertransference *The GC is displaying countertransference as she is
transferring her feelings and experiences with RP in her friend onto the client/the
family. - -A genetic counselor in the ophthalmology clinic is meeting with a family who
have a 12 year old son recently diagnosed with retinitis pigmentosa. Throughout the
appointment, the patient's father makes disparaging remarks about blindness and his
son being handicapped. The genetic counselor finds herself to be annoyed and angry
with the father. The genetic counselor has a good friend with RP and she can't help but
think about him as she talks with the family. What best describes the behavior and
feelings of the genetic counselor?
a. Transference
b. Countertransference
c. Resistance
d. Resentment
-c. 12.5%
Alport syndrome can be XLR, AD or AR. However, the most common form and the form
consistent with the pedigree is XLR. This means for the woman's mom, there is a 50%
chance she is a carrier. She has a 50% chance of passing on that X to the patient. The
patient has a 50% chance of passing that onto the future child. Note, that because it's X
linked, females with the condition may or may not manifest in symptoms.
, ½ * ½ *½ = ⅛ or 12.5% - -You are meeting with a 30 year old woman to discuss a
family history of reported Alport syndrome. She is hoping to start a family in the near
future and wishes to know her risk to have a child with the condition. After taking the
family history, you notice that only males are affected and there is no male-male
transmission. The patient's maternal uncle is affected. Based on this family history, what
is the highest recurrence risk you would quote for this patient to have a child with Alport
syndrome?
a. 50%
b. 25%
c. 12.5%
d. Less than 1%
-b. Lisch nodules. Learning disabilities and ADHD can be seen in Legius and NF1, lisch
nodules are the most common clinic sign of NF1 and do not occur in NF2 or Legius,
polydactyly is a key feature of any of these conditions - -A 12 year old female is referred
to genetics after her PCP finds 5 café au lait spots on physical exam. She also has
freckling in her armpits. Which of the following clinical findings would be most helpful
for diagnosing her?
a. Learning disability
b. Lisch nodules
c. ADHD
d. Polydactyly
-c. If she has ocular telangiectasias. Ocular telangiectasias and ataxia are features of AT
and help distinguish this condition from ataxia with oculomotor apraxia - -A 15 year old
female is referred to genetics for ataxia. Which of the following clinical findings would
be most helpful for diagnosing her?
a. Oculomotor apraxia
b. If she currently uses a wheelchair
c. If she has ocular telangiectasias
d. When her ataxia began
