Genetic Counseling Boards Review Questions and Answers (summer 2025
LMNA G608G - (answers)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 - (answers)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
眼睛”主题的中文文章？
ii. Increase specificity
iii. Decrease false positives
iv. Decrease false negatives
None of the above are reasons that MTHFR testing should be conducted - (answers)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 - (answers)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) - (answers)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
眼睛”主题的中文文章？
--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 - (answers)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. - (answers)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. - (answers)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
眼睛”主题的中文文章？
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% - (answers)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 - (answers)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眼睛”主题的中文文章？
ataxia with oculomotor apraxia - (answers)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
d. Germline mosaicism. Rashes that begin as blisters, change to appear wart like and end in hypo
or hyperpigmentation that follows blaschko's lines are characteristic of incontinentia pigmenti
syndrome. This condition has XLD inheritance BUT this condition is lethal in males in the first
trimester. The only way for dad to pass this on is if he is germline mosaic. - (answers)A 1 year
old girl is referred to pediatrics clinic due to a skin rash that began as many blisters and slowly
changed. It not appears as hypopigmentation that follows the lines of blaschko. After taking the
family history you find that she has an 11 year old paternal half sister who presented with the
LMNA G608G - (answers)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 - (answers)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
眼睛”主题的中文文章？
ii. Increase specificity
iii. Decrease false positives
iv. Decrease false negatives
None of the above are reasons that MTHFR testing should be conducted - (answers)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 - (answers)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) - (answers)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
眼睛”主题的中文文章？
--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 - (answers)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. - (answers)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. - (answers)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
眼睛”主题的中文文章？
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% - (answers)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 - (answers)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眼睛”主题的中文文章？
ataxia with oculomotor apraxia - (answers)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
d. Germline mosaicism. Rashes that begin as blisters, change to appear wart like and end in hypo
or hyperpigmentation that follows blaschko's lines are characteristic of incontinentia pigmenti
syndrome. This condition has XLD inheritance BUT this condition is lethal in males in the first
trimester. The only way for dad to pass this on is if he is germline mosaic. - (answers)A 1 year
old girl is referred to pediatrics clinic due to a skin rash that began as many blisters and slowly
changed. It not appears as hypopigmentation that follows the lines of blaschko. After taking the
family history you find that she has an 11 year old paternal half sister who presented with the
