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Board practice Qs 2
Board practice Qs 2
Terms in this set (46)
For each counselor's statement in questions 2-7, pick the technique illustrated. You are counseling Ms. Garcia about possible testing for a family-specific BRCA1 mutation:
a. Advance empathy
b. Anticipatory guidance
h. Self disclosure
j. Unconditional positive regard
So you younger sister experienced severe depression when your mom died. Poor thing!
I have many people tell me that they feel a sense of guilt about the amount of time they could spend with their loved one with cancer
You mentioned that that you and your sister are close, and you sound worried about her reaction if your test is negative. Could it be that you think a normal result will interfere with your bond with your sister?
You've done a lot to rearrange your life so that you can spend time with your mom. What a strong example you are setting for your daughter!
You said that you're ready for testing, yet earlier you mentioned that you are terrified of the result. Can we talk a little about what you would do if you found out that you have the mutation?
Sometimes people feel anxious about their own health after a positive result. Let's go over the things you can do to take care of yourself that happens.
A 20 week routine ultrasound shows shortening of all the fetal long bones <<5th percentile. The fetal head circumference is at the 95th percentile. Which of the following possibilities is the most likely diagnosis?
a. Thanatophoric dysplasia
c. Russell Silver syndrome
(Not D because bones are not that little at the 20 week gestation)
A newborn has hydrocephalus, spina bifida and club feet. This should be thought of as
a. A multiple congenital anomaly syndrome
b. A single primary malformation
c. A possible teratogenic syndrome
d. A possible chromosome anomaly
e. An association
(Spina bifida result in nerves not working in feet so club feel and the hind brain comes down and blocked so causes hydrocephalus, spina bifida is multifactorial)
A 5 year old tuberous sclerosis patient has an identifiable TSC1 gene mutation. Both parents appear unaffected and neither of them is found to have the TSC1 mutation present in their child. Which of the following is not a possible explanation?
a. De novo mutation in the child
c. Variable expressivity
d. Gonadal mosaicism in 1 of the of parents
e. All of the above are possible explanations for this family
C (because you need to have a mutation to have variable expressivity)
Which of the following is not a feature of hereditary cancer syndromes?
a. Earlier age of diagnosis
b. Multiple family members affected
d. Bilateral cancers
e. Rare or unusual cancers
All of the following disorders have an increased frequency in the Ashkenazi Jewish population in comparison with other N. European populations EXCEPT:
a. Tay Sachs disease
b. Canavan disease
c. Bloom syndrome
d. Gaucher disease
e. Cystic fibrosis
Renal call carcinoma is greatest concern in
a. Tuberous Sclerosis
b. Adult polycystic kidney disease
c. Gardner syndrome
d. Von Hippel Lindau disease
e. Neurofibromatosis type 1
(More common in VHL than TS)
Choose the incorrect statement:
a. Hemochromatosis is an autosomal recessive disorder
b. Acute intermittent porphyria is an autosomal recessive disorder
c. Symptomatic hemochromatosis occurs more often in males than females
d. <20% of people with an acute intermittent porphyria genotype develop symptoms
e. <20% of people with a hemochromatosis genotype develop symptoms
(B incorrect because it is a dominant disorder,
C: Correct because males do not menstruate)
Chorionic villus sampling is indicated for all of the following situations EXCEPT
a. mother is a carrier of factor VIII deficiency
b. Previous child with spina bifida
c. Previous child with Tay-Sach disease
d. Father is a 14;21 translocation carrier
e. Previous child with Trisomy 18
(spina bifida is multifactorial)
The level of maternal serum AFP is affected by all of the following factors except:
a. maternal weight
b. maternal race
c. maternal insulin dependent diabetes
d. maternal age
(AFP not affected by maternal age but affected by gestational age)
Choose the correct answer regarding human meiosis
a. meiosis II is the reduction division
b. females produce 1 gamete and 3 polar bodies
c. male meiosis begins prenatally
d. chiasmata position are not associated with non disjunction
(A: Incorrect because meiosis I is the reduction division
(B:Incorrect because male meiosis begins in adolescence)
(D: Incorrect because it is associated)
Which of the following is true regarding triploidy?
a. Different phenotypes present for triploids with extra paternal vs. maternal material
b. Most result from a complete failure of meiosis I in males (diploid sperm)
c. Associated with advanced maternal age
d. Triploid/tetraploid mosaicism is a common finding
e. Less common in Asian population
(A: Paternal results in molar pregnancy and maternal creates more a fetus that is small for gestational age)
Mariah is a 42yo woman who is referred to you for counseling due to her anxiety over her family history of cancer. In her pre-counseling referral she indicates that her sister is recently diagnosed with uterine cancer at 39 and is currently undergoing treatment. What would be your next best step in care of this family?
a. Assess the family history further for any other cancer or genetic testing history in order to provide appropriate care
b. Counsel Mariah about her increased risk for colon and uterine cancer due to her family history
c. Offer Maria genetic testing through a Next-Generation sequencing panel
d. Recommend tumor tissue testing for Mariah's sister through Immunohistochemistry
You are meeting with a 52yo patient with a history of 10 adenomatous polyps on recent colonoscopy. He reports that his mother died of a cancer in the "female organs" in her 80s. She had a brother who died of pancreatic cancer in his 70s. His family history is most indicative for which of the following hereditary cancer syndromes?
a. Cowden syndrome
b. Lynch syndrome
c. Familial Adenomatous Polyposis
d. None of the above. More information is needed to assess this family
(Not A because should be hammartomatous polyps, since patient's mother's cancer is unspecified, need to further clarify)
The American College of Medical Genetics guidelines state that ___ is the first-tier test for individuals with autism, developmental delay, intellectual disability, and/or multiple congenital anomalies.
b. plasma amino acids
c. FMR1 repeat analysis
d. Chromosomal microarray analysis
Which of the following is NOT a disorder of triple nucleotide repeats?
a. Friedreick Ataxia
b. Huntington disease
c. Tay Sachs
d. Fragile X
A genetic counselor is working with a couple and the husband is verbally abusive to his wife, making several unnecessarily critical and demeaning statements. The counselor finds herself getting angry and realizes that she is thinking about her own father, who always belittled her efforts to get a degree in science, yet encouraged her brothers to become professionals. This is an example of:
a. Boundary issues
(C because it is from counselor to patient)
A couple requests pre symptomatic testing for Huntington disease for their 7 year old asymptomatic daughter. Which of the following is the BEST reason to consider testing?
a. Benefits may outweigh the risks for a mature child
b. Current treatments are likely to be helpful if instituted early
c. Parents can incorporate education about HD into the child's life
d. Testing allows children to make autonomous decisions
e. Testing relieves parental anxiety
(B: incorrect because there is no current treatment
E: never is a good reason to test minors
*If there is medical benefit = best reason to test minors)
Karen was diagnosed with stage IV metastatic colon cancer at 45 and is currently undergoing treatment. Her oncologist ordered tumor tissue testing, which identified the presence of the protein products for MLH1, MSH2, MSH6, PMS2 on immunohistochemistry and normal microsatellite instability. Karen's farther died of lung cancer in his 60s following a history of smoking and her mother had several basal cell carcinomas removed in her 30s. There is no other reported family history of cancer. Karen is referred to you for follow-up counseling. What would be your plan for this patient.
a. To offer molecular testing for Lynch syndrome due to the patient's early age of diagnosis
b. To offer molecular testing for a colon targeted Next-Generation sequencing panel due to your patient's history of early-onset colon cancer
c. To reassure your patient that additional testing is not needed at this time but her family is still at a moderately increased risk for colon cancer due to her history.
d. To reassure your patient that additional testing is not needed at this time and her family is likely not at increased risk for cancer due to the normal tumor tissue tests
(A: only do this if the MSI results were unstable)
Which of the following statements is true regarding tumor suppressor genes?
a. Tumor suppressor genes can only lead to cancer when both alleles are non-functioning
b. Only 1 mutation in a tumor suppresser gene is needed for cancer to develop
c.Tumor suppressor genes are not a common cause of hereditary cancer syndromes
d. All individuals with a tumor suppressor gene mutation will develop cancer if they live a normal life span
e. A mutation in a tumor suppressor gene can lead to cancer developing by increasing the normal activity of the gene
(A because of the 2-hit hypothesis)
Many oncogenes, which lead to the development of cancer, cause an increase in the expression of gene product leading to some of the changes required in turning a normal cell into a tumor cell (e.g. sufficiency in growth signals or infinite lifespan). As such, oncogenes are generally classified as:
a. loss of function mutations that are recessively inherited
b. Gain of function mutations that are recessively inherited
c. loss of function mutations that are dominantly inherited
d. Gain of function mutations that are dominantly inherited
Which of the following is an explanation of a pre symptomatic test?
a. Testing that will determine if a person will develop a condition within a normal lifespan
b. Testing that will determine if a person has an increased risk to develop a condition
c. Testing to see if someone is a carrier of an autosomal recessive condition
d. Testing a person with symptoms of a condition to determine if they are afffected
A mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) is a changed in the codon #551 as shown below:
Normal codon:---------Mutant Codon--
DNA: 5'... GGT... 3'------ 5'...GAT...3'
RNA: 5'... GGU... 3'------5'...GAU...3'
Protein: Gly -----------......Asp....
What is the effect of the above mutation?
Ans to Q29: C
(Not E because insertion means inserting 3 base pairs)
Paul's brother is affected with cystic fibrosis (CF). Paul is Hispanic and his expectant wife is Caucasian. Paul's wife has no family history of cystic fibrosis. The CF carrier rate in the general population is 1 in 46 for Hispanics and 1 in 25 for Caucasians. What is the approximate risk their pregnancy will be affected with CF?
a. 1 in 50
b. 1in 100
c. 1 in 150
d. 1 in 200
e. 1 in 4600
(2/3 x 1/2 x 1/25 x 1/2)
Given the following pedigree for a family with cystic fibrosis, please indicate all obligate carriers
a. I-1, I-2, I-3, I-4, II-1, II-2, IV-1, IV-2
b. II-2, II-3
c. II-1, II-2, IV-1, IV-2
d. I-1, I-2, I-3, I-4, II-1, II-2
e. II-2, II-3, III-2, III-3
Answer is on Q32
Ans to q32: C
A particular gene in a population (at Hardy-Weinberg equilibrium) is present in 2 alleles, p and q. The frequency of the dominant allele is 0.7. Within the population, what is the frequency of the heterozygotes?
(2pq = 2 x 0.7 x 0.3)
Below are Souther blot results for a closely linked polymorphic Variable number of Tandem Repeat (VNTR) with 4 alleles (A through D). Each blot result is directly below the tested individual. Child 1 is affected with a recessive condition.
What can you predict regarding the expected disease status of the pregnancy?
a. Most likely affected
b. Most likely unaffected and not a carrier
c. Most likely a carrier, inheriting the mutant allele from the father
d. Most likely a carrier, inheriting the mutant allele from the mother
e. The test is uninformative; we cannot predict the genotype of the unborn child
Ans to Q35: C
In the US, the incidence of affected males with Hemophilia A is 1/5000. Assuming Hardy Weinberg equilibrium, what is the female carrier frequency for Hemophilia A in the US?
e. 1/25 million
(Hemophilia A is x linked so q = 1/5000, 2pq =1/2500 since females can pass either one of their X chromosomes)
The incidence of phenylketonuria, au autosomal recessive disorder, in the US is 1/10,000. What is the disease allele frequency, assuming Hardy Weinberg equilibrium?
(q^2 = 1/10,000, q = 1/100)
The Sickle cell allele of the beta-globin gene is more abundant in the African-American population than in the US population as a whole primarily because of
a. Geographic stratification
b. Assortive mating
c. Heterozygote advantage
d. New mutations
e. Founder effect
(Classis heterozygote question)
If a mutation is found near the middle of the first intron of a gene, what would be the most likely effect of the mutation?
b. no change
(since mutation is deep inside intron will not affects splice site)
Put the following second trimester ultrasound anomalies in order of the highest to the lowest risk for an associated chromosome anomaly.
cystic hygroma = C
holoprosencephaly = H
Ventriculomegaly = V
Pylectasis = P
(66% of C is due to chromosome anomaly, 50% of H due to chromosome anomaly, 10% of V due to chromosome anomaly, 1% of P due to chromosome anomaly)
You provide genetic Counseling for Mr. X and his 2 daughters who are in their 20s. Mr. X has an X linked recessive condition caused by a trinucleotide repeat expansion. During the genetic counseling session, you speak with each daughter separately about reproductive options. Each understands that she is an obligate carrier of the condition and is interested in pursuing prenatal diagnosis. A few days later, Mr X called to find out what his daughters' reproductive plans are. Your best response to his inquire is to say:
a. both daughters have a good understanding of the risk of the condition and their options
b. your discussion with each daughter was confidential and you cannot discuss it with him
c. both daughters had thoughtful questions and expressed loved for their father, but asked that you not discuss their decisions with anyone
d. your discussion with each daughter revealed that each is interested in prenatal diagnosis but results of the future testing is confidential
(have to protect confidentiality)
A boy has a premature stop codon in the dystrophin gene confirming a diagnosis of Duchenne muscular dystrophy. His mother is a molecularly confirmed carrier of the mutation. The parents wish to have carrier testing performed on their 2 year old daughter, a full sister to the affected boy, and tell her the results sometime later in her life. As the genetic counselor in the muscular dystrophy clinic, you and the parents discuss the pros & cons of carrier testing in asymptomatic minors. The most important reason for the young girl to not have carrier testing at this age is the:
a. lack of medical benefit to testing in childhood
b. secrecy created between parents and child
c. potential for discrimination by insurance companies
d. loss of autonomy in choosing to have genetic testing
(medical benefit triumphs everything!)
A male child, age 4 is diagnosed with Duchenne muscular dystrophy based upon having the classical clinical findings. The parents of this child wish to have future children and have question regarding recurrence risks they face. Which of the following statements is true?
a. If the mother is not affected, there is no chance that this could re-occur in the future.
b. If PCR based DNA testing of blood did not detect a deletion of the DMD gene in the child, there is a low likelihood that this could re-occur in future children in this family
c.The chance that his child inherited DMD mutation from his mother is not greater than 33%
d. If PCR based DNA testing of blood detected a deletion of the DMD gene in the child, but not the mother, then this family's recurrence risk would be no different than that of the general population for DMD incidence.
e. None of the above are correct
(A wrong because of the DMD de-novo rate
B wrong because at most DNA detects 60% of affected males
C wrong because 2/3 chance that child inherited DMD mutation from his mother
D wrong because if there is gonadal mosaicism, there is still increased risk of recurrence above the general population)
A child with a cleft lip comes to pediatric clinic. He has no other abnormal features upon your careful physical exam; and he is developmentally appropriate. There is no family history of cleft lip, nor cleft palate. Which of the following courses of actions would be appropriate at this point?
a. Inform the parents that although this appears to be an isolated finding in their child, recurrence could occur in their future offspring due to multifactorial inheritance
b. Order chromosome analysis with reflex to comparative genomic hybridization if chromosomes are normal
c. Order fragile X PCR and Southern blot analysis to look for an expanded number of CGG repeats.
d. Order comparative hybridization array analysis with reflex to targeted FISH analysis for any suspected pathogenic deletions or duplications
e. Order DNA sequencing of the CLLP gene with reflex to deletion/duplication analysis
Why might some autosomal dominant disorders be seen more commonly in the offspring of older fathers?
a. Sperm are only produced during male embryonic development, thus, old males produce old sperm cells
b. The rate of chromosomal non-disjunction events increases in older males
c. Spermatogonium continue to divide throughout the lifetime of males, thus over time replication errors are more likely to accumulate in these cells and their derivatives
d. because of the genetic effects of uniparental disomy
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