2016_PittCourse_PostTest_ANSWERS.pdf

2016 POSTTEST PRACTICE EXAM Notice: If you are taking the Course for CEUs, either now or in the future, you are required to score a minimum of 80%. Your current score is 0% You scored a 22 % ( 22 / 100 ) 1: A woman with advanced breast cancer has an appointment with the geneti...

2016 POSTTEST PRACTICE EXAM Notice: If you are taking the Course for CEUs, either now or in the future, you are required to score a minimum of 80%. Your current score is 0% You scored a 22 % ( 22 / 100 ) 1: A woman with advanced breast cancer has an appointment with the genetic counselor and her oncologist. The genetic counselor calls the woman before the appointment to obtain and review the family history. At that time, the woman abruptly states she does not need genetic counseling because she will be fine and wishes to cancel the appointment. This is an example of: a. Distancing. b. Escape-avoidance c. Plan d. Positive reappraisal Incorrrect. The answer is b 2: Which of the following conditions is the most common cause of congenital heart defects in newborns? a. 22q 11.2 deletion syndrome b. Trisomy 21 c. Trisomy 13 d. CHARGE Syndrome Incorrrect. The answer is b 3: Common triggers for sudden cardiac events for individuals with Long QT syndrome include all of the following except: a. Sleep/rest. b. Emotion. c. Vigorous exercise. d. Fever. Incorrrect. The answer is d 4: A genetic counselor is meeting with parents of a newborn child with Down syndrome. When reviewing the pregnancy history, the father turns to the mother and yells, "This is all your fault! I told you not to have those drinks over the holidays!" This is best described as: a. Confrontive. b. Self-controlling. c. Accepting responsibility. d. Distancing. 5: The genetic counselor is meeting with a family at a six month follow-up appointment for their child with Angelman syndrome. At the first meeting, the genetic counselor recalls the father was tearful and expressed his grief at the loss of having a "normal" child. At the current appointment, the father discusses his difficulties with sleep and his lack of interest in engaging with his wife and child. Which is the most appropriate intervention? a. Do nothing. This is a normal response. b. Refer him to an internet site with information about Angelman syndrome.  c. Refer the patient for mental health services. d. Shift attention to the mother to determine how she is coping. Incorrrect. The answer is c 6: The genetic counselor is meeting with a couple pregnant with their second child. While reviewing the family history, the couple discloses that their first child was born with a cleft lip. The mother explains to the counselor that she originally did not want to keep the first pregnancy and the cleft lip is a punishment for considering termination. What emotional response is the mother expressing? a. Guilt b. Denial c. Shame d. Despair 7: After disclosure of a positive result for a BRCA1 mutation, the genetic counselor encourages the woman to consider sharing the family history and test result with her adult daughter. One week later, the genetic counselor receives a phone call from the patient who yells that her daughter is no longer speaking with her and does not want to know if she has inherited the mutation. She states that the genetic counselor has ruined her relationship with her daughter. What is the genetic counselor's best response? a. Allow for some silence in order to give the patient an opportunity to calm down. b. I think you may be angry with your daughter over her decision. Can I help to facilitate a discussion between the two of you? c. This must be very upsetting for you. Can you tell me more about what happened when you disclosed your results to your daughter? d. Your daughter is making an unwise decision and should reconsider given her 50% risk to have inherited the mutation. Incorrrect. The answer is c 8: Spinal muscular atrophy is: a. A primary muscle disease. b. Characterized by loss of anterior horn cells in the spinal cord. c. Caused by mutations in the SMA1 gene. d. An autosomal dominant disorder. Incorrrect. The answer is b 9: This term is used to describe a slow heart beat: a. Long QT interval b. Tachycardia c. Bradycardia d. Atrial Fibrillation Incorrrect. The answer is c 10: Which of the following is NOT an appropriate strategy for crisis intervention? a. Ask your patient how they have coped with difficult situations in the past and explore whether the same strategies may be helpful. b. Ask your patient to describe their available social support, and help them to determine who or what will be most helpful to seek out first. c. During your discussion, assess for any suicidal or homicidal thoughts or plans. d. Help your patient to put their situation in perspective by telling them that they "will be OK" or "it's not as bad as you think." Incorrrect. The answer is d 11: Monozygous twin females have the greatest likelihood for an extremely discordant phenotype for a. Cystic fibrosis. b. Polyposis of the colon. c. Hurler syndrome. d. Duchenne muscular dystrophy. Incorrrect. The answer is d 12: A newborn infant has extreme hypotelorism, microcephaly, midline cleft, poor temperature regulation, seizures, and no anomalies below the neck. The most likely diagnosis is a. Trisomy 13. b. Trisomy 18. c. Holoprosencephaly. d. Meckel-Gruber syndrome. Incorrrect. The answer is c 13: The onset of Huntington disease at the age of 8 years, presenting with rigidity, is indicative of a. Maternal inheritance of the CAG repeat expansion. b. Paternal inheritance of the CAG repeat expansion. c. Maternal uniparental disomy of the CAG repeat expansion. d. Paternal uniparental disomy of the CAG repeat expansion. Incorrrect. The answer is b 14: 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. Incorrrect. The answer is d 15: In Klinefelter syndrome: a. Treatment with testosterone improves fertility. b. There is a >60% risk of renal anomalies. c. Reading skills are typically unaffected. d. There is no evidence for an increased recurrence risk. Incorrrect. The answer is d 16: The risk of having an affected child is highest for a healthy person with which of the following karyotypes: a. 46,XY,der(13;14)(q10;q10)+13 b. 45,XX,der(14;21)(q10;q10) c. 45,XY,der(21;21)(q10;q10) d. 45,XY,der(13;14)(q10;q10) Incorrrect. The answer is c 17: A couple wants to begin a pregnancy and asks you about recurrence risks for pyloric stenosis. You remember the multifactorial threshold model shows a higher risk threshold for females. You are able to be most reassuring and predict the lowest risk for a. A male relative of a male patient. b. A female relative of a male patient. c. A male relative of a female patient. d. A female relative of a female patient. Incorrrect. The answer is b 18: Pectus excavatum is a a. Type of scoliosis. b. Neurological condition. c. Foot deformity. d. Chest wall deformity. Incorrrect. The answer is d 19: The Genetic Information Nondiscrimination Act (GINA) of 2008 grants protection from discrimination in which of the following scenarios? a. A woman who has breast cancer and learns she has a pathogenic BRCA1/BRCA2 mutation is now protected from increases in her health insurance premiums. b. A pilot who is in the U.S Airforce can have presymptomatic testing for HD without fear of employment discrimination. c. A man who is undergoing presymptomatic von Hippel Lindau testing for a familial mutation is protected from increases in his health insurance premiums regardless of his result. d. An asymptomatic woman who learns that she is positive for a familial pathogenic BRCA1 mutation cannot be excluded from obtaining life insurance. Incorrrect. The answer is c 20: Which of the following is an example of reduced penetrance? a. A woman has a father and granddaughter with split hand deformity; the woman?s hands and feet are normal in appearance and by x- ray. b. A man has a child with Β-thalassemia who requires blood transfusions. During a genetic counseling session, he reports that his doctors have told him that he has a mild anemia and should be taking iron supplements. c. A 12 year old boy dies inexplicably in bed overnight. Autopsy reveals he had a cerebral AVM that burst. DNA testing reveals a deleterious mutation in the endoglin gene; thus he has a diagnosis of hereditary hemorrhagic telangiectasia (HHT). Testing of other family members reveals his father and paternal grandmother also have the same deleterious mutation but they only have nosebleeds. Scans of their chest and brain reveal no signs of arteriovenous malformations. d. Two full siblings have cystic fibrosis; one sibling had meconium ileus, and was hospitalized 10 times for pneumonia before age five. The other sibling has failure to thrive but has never had any serious lung infections or required hospitalization. 21: You meet with your counselee, Ms. Garcia, to discuss testing for a family-specific BRCA1 mutation. During the session you say "I have had many people tell me that they feel a sense of guilt about passing a cancer mutation to their children." This is an example of: a. Anticipatory guidance. b. Confrontation. c. Empathy. d. Normalization. Incorrrect. The answer is d 22: In a counseling session for presymptomatic BRCA1 testing, you make the statement: "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 if that happens." Which technique is illustrated? a. Anticipatory guidance b. Empathy c. Immediacy d. Normalization 23: Haploinsufficiency best explains which of the following conditions? a. Beta thalassemia major b. Sickle cell anemia c. Familial hypercholesterolemia d. Testicular feminization Incorrrect. The answer is c 24: Which of the following statements regarding Hardy-Weinberg equilibrium is INCORRECT? a. The frequency of the disease is the square root of the gene frequency. b. The frequency of carriers is equal to twice the product of the gene frequencies. c. The frequency of carriers in rare disease is approximately equal to 2q. d. The frequency of heterozygotes of rare diseases is greater than the frequency of homozygotes. 25: The following pedigree shows a family segregating muscular dystrophy due to presumed dystrophinopathy (Duchenne/Becker dystrophy). II-1 was found to have a deletion mutation of exons 45-48 of the dystrophin gene. II-3 was tested, and was found to be test negative for this mutation. The risk to III-2 for the dystrophinopathy is closest to: a. 0% b. 10% c. 50% d. 100% 26: CHARGE syndrome typically consists of which of the following features ( CHD7 gene at 8q12.1)? a. Coloboma (iris and retina) b. Hearing defects c. Genital defects d. All of the above Incorrrect. The answer is d 27: You see a previously healthy 3-day-old male infant who is very lethargic, vomiting, and had a seizure. Which of the laboratory tests would be most appropriate to obtain initially to confirm your suspicions? a. A 24 hour urine homogentisic acid level b. Serum ammonia level c. Plasma phenylalanine level d. Ornithine transcarbamylase gene sequence Incorrrect. The answer is b 28: The concept that genetic counseling must be nondirective arises directly from respect for which of the following principles of medical ethics? a. Autonomy b. Justice c. Beneficence d. Paternalism 29: Shown below is a genome browser view of the SPP1 (osteopontin) gene. As shown by the arrows, the direction of transcription of this gene is from left to right. The schematic shows evidence of which of the following features of this transcript unit ( SPP1 gene)? a. Alternative promoter use b. Alternative 3' end (poly A sites) c. Alternative splicing d. All of the above Incorrrect. The answer is c 30: Which of the following testing methods would be most useful for a condition where there are few common mutations, and most mutations are due to missense or nonsense mutations? a. Allele specific oligonucleotide hybridization b. Matrix assisted laser desorption/ionization-time of flight c. Multiplex ligation dependent probe amplification d. Massively parallel sequencing Incorrrect. The answer is d 31: You are meeting with a woman for genetic counseling due to a history of multiple miscarriages. When planning your approach for the case, which is the MOST effective and direct way to understand how your client is dealing with her multiple losses? a. Ask your client to tell you the "story" of what brings her in for genetic counseling. b. Assume that the client experienced grief for several weeks after each loss, but has returned to her pre-crisis level of functioning. c. Review the available medical records, looking for documentation of depression. d. Take the family and medical history to develop a rapport with your client. 32: A 26-year-old woman of Norwegian descent seeks genetic counseling. Her brother died at age eight of documented cystic fibrosis (CF). Both of their parents are deceased. The woman undergoes DNA testing for 70 CF mutations which collectively detects approximately 90% of CF carriers of northern European descent. Testing reveals that she is negative for all 70 mutations. What is the probability that she is a heterozygous carrier of CF? a. 2/3 b. 1/5 c. 1/6 d.