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Genetic Counseling Boards Review Questions and Answers 100% Pass
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Genetic Counseling Boards Review Questions and Answers 100% Pass LMNA G608G - ANSWER -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 hi...

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  • December 19, 2024
  • 86
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers

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  • genetic counseling boards review questions and ans

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  • ABGC
  • ABGC

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Genetic Counseling Boards Review Questions and
Answers 100% Pass


LMNA G608G - ANSWER ✔✔-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 - ANSWER ✔✔-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




Created by Grace Amelia © 2025, All Rights Reserved.

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iv. Decrease false negatives


None of the above are reasons that MTHFR testing should be conducted - ANSWER ✔✔-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 - ANSWER ✔✔-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) - ANSWER ✔✔-For which

indication would telehealth service delivery model be inappropriate?


Breast cancer


Marfan Syndrome


Carrier screening


Cascade testing


1/100




Created by Grace Amelia © 2025, All Rights Reserved.

,3|Page


--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 - ANSWER ✔✔-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. - ANSWER ✔✔-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



Created by Grace Amelia © 2025, All Rights Reserved.

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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. - ANSWER ✔✔-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% - ANSWER ✔✔-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?




Created by Grace Amelia © 2025, All Rights Reserved.

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