ABGC Practice Quiz Questions
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. The coping style the counselee is using is: A) Distancing B) Escape-avoidance C) Planning D) Positive reappraisal
A
A newly married woman who is six weeks pregnant presents for genetic counseling because she reports drinking alcohol during her honeymoon four weeks ago. She is concerned about the chance of having a baby with a problem due to her alcohol exposure. During the genetic counseling session which information is the most appropriate to provide to this patient? A) Explain to her that the timing of her exposure is very important in determining the risk to the fetus B) Recommend that she considers terminating the pregnancy C) Recommend that she has an amniocentesis D) Tell her that there is no safe level of alcohol exposure during pregnancy
A
A 35 year old woman's mother was recently diagnosed with ovarian cancer and had BRCA testing that revealed a BRCA 2 mutation. She is being seen for genetic counseling because she wants to pursue BRCA testing for herself and her two young daughters. The genetic counselor explains that BRCA testing is not recommended for children highlighting the concept of: A) Autonomy B) Beneficence C) Justice D) Nonmaleficence
A
A genetic counselor is supervising a second year genetic counseling student in clinic. The student is taking the lead in the session and has established a good rapport with the client. At one point the student mis-speaks and says the pregnancy has a 10% risk for a trisomy based on her advanced maternal age. The pregnancy has a 1% risk. How should the supervising genetic counselor handle this situation? A) Interject and make the correction but allow the student to continue with the session B) Let it pass the patient probably didn't catch the error C) Stop the session and reprimand the student for making such a careless mistake D) Take over the session because the student is unprepared
A
A genetic counselor meets with the parents of a 15-year-old girl who was recently diagnosed with Turner syndrome. The parents do not want their daughter to be informed about her diagnosis because they feel that it will upset her and they prefer to wait and tell her themselves when they think that she is ready. Which of the following is the BEST approach by the counselor? A) discuss strategies for talking about this diagnosis with girls her age B) encourage the parents to join the local Turner syndrome support group C) honor the parents' request because the patient is a minor D) insist they share the diagnosis with their daughter as soon as possible
A
A new patient to the adult medical genetics clinic reports that he has recently started to exhibit symptoms of a neuromuscular disorder. An evaluation is performed and genetic testing is ordered. At a follow-up appointment, the genetic counselor discloses the confirmatory test result. The patient tearfully asks the genetic counselor, "Why is this happening to me?" Which is the best response from the genetic counselor: A) I know that this is difficult to hear but there is nothing you did to cause this B) Please tell me more about what you are feeling right now C) We can address your question at some point but first let's finish reviewing the inheritance of the condition D) You are experiencing the symptoms of a late-onset neuromuscular condition
A
A young man is being evaluated to see if he has Cystic Fibrosis. He has a borderline sweat test: 50 meq/l of Cl-. Which of the following reports is most helpful in ruling out a diagnosis of CF? A) Genetic testing report that identified one CF variant B) Normal pancreatic enzyme levels C) Repeat Sweat test report that is 55meq/l of Cl- D) Urology report confirming that he has vas deferens and a normal sperm count
A
At a follow-up appointment for the family of a newborn diagnosed with Trisomy 18, the counselor asks the parents how they each are doing. The father replies, "Okay." To which the counselor responds, "Tell me what okay means to you." The counselor's response is an example of: A) Clarifying B) Redirecting C) Reflecting D) Rephrasing
A
Exome sequencing can detect causative variants for: A) Early onset Alzheimer disease B) Facio-Scapulo-Humeral Dystrophy C) Myotonic Dystrophy, type 1 D) Spinocerebellar ataxia type 1
A
For which of the following patients seen in a genetics clinic would clinical exome sequencing be the most appropriate next step? A) A four week old infant with multiple congenital anomalies B) A three year old boy with delayed motor milestones, including difficulty climbing stairs C) A five year old boy with intellectual disability, a long face, and large ears D) A teenager with shortness of breath, chest pain, palpitations, and syncope
A
Monozygous twin females have the greatest likelihood for an extremely discordant phenotype for: A) Hunter syndrome B) Huntington disease C) Hurler syndrome D) Sanfilippo syndrome
A
The chance an individual with the 22q11.2 deletion syndrome would have a child with the same syndrome is: A) 50% B) 25% C) 10% D) 2-3%
A
The risk of cardiomyopathy is highest in women who are carriers of: A) Duchenne muscular dystrophy B) Fascioscapulohumeral dystrophy C) Myotonic dystrophy type 2 D) Pompe disease
A
When contracting with a patient at the beginning of a genetic counseling session, which of the following should the counselor address FIRST? A) An outline for the session allowing the patient to add any concerns to discuss in the session B) the charges for testing and if the patient wants the insurance company to be billed C) the patient's ethnic background to assess the risk for other genetic conditions D) the patient's religious background to determine how to provide information in a sensitive manner
A
Which of the following is a NOT a defining feature of autism? A) Disruptive and confrontational behavior B) Impairments in socialization C) Impairments in verbal and non-verbal communication D) Restrictive and repetitive patterns of behavior
A
Which of the following lysosomal storage disorders is X-linked? A) Fabry disease B) Morquio syndrome C) Neimann Pick disease, type C D) Tay Sachs Disease
A
While the most frequent form of cri-du-chat syndrome results from a sporadic deletion at the end of the short arm of chromosome 5, occasionally cri-du-chat syndrome can run in families. In familial cri-du-chat syndrome, one parent has: A) A balanced translocation involving chromosome 5 B) A duplication of the short arm of chromosome 5 C) A marker chromosome containing material from chromosome 5 D) A pericentric inversion on chromosome 5
A
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
A
You are working in a general genetics clinic and a 24 month old boy is being seen for the first time to evaluate his developmental delay. The pediatric geneticist learns that he had a cleft palate repaired shortly after birth and that his father is slow and was born with a congenital heart defect. The geneticist is concerned that the baby may have: A) 22q11.2 deletion syndrome B) Fragile X syndrome C) Pierre Robin Syndrome D) Stickler syndrome
A
A woman is referred for prenatal genetic counseling due to a family history of Duchenne muscular dystrophy (DMD). She has a maternal uncle with DMD, but no other affected relatives. Her chances of being a carrier is: A) 2/3 B) 1/2 C) 1/3 D) 1/4
C
Familial hypercholesterolemia is caused by defects in which of the following: A) Cholesterol storage B) Cholesterol synthesis C) LDL receptors D) Steroid hormone synthesis
C
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!" Which coping style is best represented by the father? A) Accepting responsibility B) Confrontive C) Distancing D) Self-controlling
B
A 30 year old man is being seen in cardiac genetics clinic because his 6 year old daughter recently survived a near drowning. After this incident she had genetic testing that revealed that she has Long QT syndrome. The father states that he assumes that he passed this condition on to his daughter because he had a brother that drowned when he was 8 years old. He is very concerned about how this diagnosis will change his lifestyle. What is the BEST response by the genetic counselor to respond to his concerns? A) Everyone passes something along to their children B) It will take time to adjust to this new diagnosis C) Long QT is a manageable condition D) You are lucky that your daughter did not drown and that she is receiving good care
B
A 30 year old man presents with fatigue and joint pain in his hands. During the appointment a pedigree is constructed. Which of these statements about the family history is most compelling for hereditary hemochromatosis? A) The patient has a brother also has joint pain and fatigue B) The patient has Celtic Ancestry and a father with primary liver cirrhosis C) The patient's mother is from Ireland and she has iron deficiency anemia D) The patient's sister is a frequent blood donor
B
A couple has a daughter with clefting due to Van der Woude syndrome, an autosomal dominant disorder that presents in childhood. After a careful exam, neither parent has been found to show symptoms. What is the most likely explanation for this family? A) Mitochondrial inheritance B) Reduced penetrance C) Sex influenced inheritance D) Variable expressivity
B
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) Confrontation B) Countertransference C) Identification D) Transference
B
A genetic counselor orders exome sequencing for a child who has hypotonia and developmental delays. The family opts-in for reporting of secondary findings. The genetic counselor should inform the family that a secondary finding associated with which disorder may be identified? A) 22q11.2 deletion syndrome B) Brugada syndrome C) Cystic fibrosis D) Duchenne Muscular Dystrophy
B
A woman is seen for genetic counseling because her three year old son was recently diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the diagnosis and the fact that she passed along this disease to her son. Her son's physician has referred her to see a cardiologist on numerous occasions but she has not kept the scheduled appointments. What is the best approach to take with this patient to encourage her to see a cardiologist? A) Tell her that she is being irresponsible and wasting the cardiologist's time by not keeping her scheduled appointments B) Discuss with her the reasons why she has not been able to keep her scheduled appointments and provide support to encourage her to make keep her next appointment C) Tell her that she is at risk for cardiac disease and that she must keep her appointment D) Explain that if she wants to have more children it is important to maintain her own health
B
A woman with European ancestry presents for genetic counseling. She had a full sibling who died in childhood of documented cystic fibrosis. She has a negative CF test that is known to identify approximately 90% of CF carriers of northern European descent. What is the probability that she is a heterozygous carrier of CF? A) 1/2 B) 1/6 C) 1/10 D) 1/20
B
All of the following syndromes are consistently associated with hearing loss EXCEPT (choose ONE): A) Alport syndrome B) Fragile X syndrome C) Pendred syndrome D) Waardenburg syndrome
B
Defects in the genes that encode proteins involved in homologous recombination repair cause: A) Aicardi-Gutieres syndrome B) Hereditary breast/ovarian cancer C) Lynch syndrome D) Retinoblastoma
B
Patients with Smith-Lemli Opitz may have all of the following clinical findings except: A) Intellectual disability B) Macrocephaly C) Photosensitivity D) 2-3 syndactyly of the toes
B
The following trait has a population frequency of 1 in 40,000. The proband has this trait, as does his oldest brother and father. The proband's mother, other brother, and 3 sisters are all unaffected. The proband's wife has no family history of this trait. Assuming the most likely most likely interpretation of the mode of inheritance, the probability of the proband's daughter inheriting the familial mutation is which of the following? A) 100% B) 50% C) 1% D) 0%
B
The recurrence risk for isolated cleft lip and palate to siblings of an affected child born to unaffected parents is? A) 1% B) 2-5% C) 10-15% D) 20-25%
B
Which of the following is an example of variable expressivity in humans: A) An individual who is homozygous for the mutations causing red hair and albinism will have white hair B) A person with hearing loss and a white forelock due to a dominant PAX3 mutation may have a parent who has a white forelock but no hearing loss C) A person who is heterozygous for a loss of function LDL receptor mutation will have elevated cholesterol levels D) Two individuals with retinitis pigmentosa may have mutations in the same genes or in different genes
B
A couple who are first cousins are seen for preconception genetic counseling to find out about their chances of having a child with a genetic disease that runs in their family. Their common maternal aunt has PKU. What is the chance that this couple will have a child with PKU? A) 1/9 B) 1/16 C) 1/36 D) 1/64
C
35 year old man has direct to consumer genetic testing and learns that he is at increased risk for prostate cancer above the general population risk. He talks to his parents and learns that several members of his mother's family had early onset colon cancer including his maternal grandfather and uncle but there is no family history of prostate cancer. Intrigued he asks his family doctor who refers him for genetic counseling. The genetic counselor discusses the link between prostate and colon cancer. What type of testing would be most helpful for this man? A) BRCA testing B) Familial adenomatous polyposis testing C) Lynch syndrome testing D) PTEN testing
C
A 22 year old woman is referred to genetics clinic for evaluation of frequent nosebleeds often occurring at night. In taking a family history, you learn her father has also experienced recurrent nosebleeds and her paternal grandmother died from a stroke in her 50s. Upon exam, your patient was found to have telangiectases on her mouth and hands. What diagnosis is most likely? A) Ataxia-telangiectasia B) Hemophilia B C) Hereditary Hemorrhagic Telangiectasia D) Hereditary Hemochromatosis
C
A 35 year old woman is seen for genetic counseling because she wants to have cfDNA testing in her current pregnancy. The patient is very concerned about the risk of miscarriage associated with amniocentesis but also wants to be completely sure that her current pregnancy will be unaffected by a chromosomal trisomy. What is the most important information to communicate to this patient in the session? A) cfDNA has a high level of accuracy; at least 99% of pregnancies with Trisomy 21 are detected prenatally B) cfDNA is a newer test and may not be covered by insurance C) cfDNA is a screening test, not a diagnostic test, with rare false positive and false negative results D) cfDNA is generally offered between 10-22 weeks of gestation
C
A couple wants to begin a pregnancy and asks you about recurrence risks for pyloric stenosis, a condition more common in females. The risk is lowest for: A) a female relative of a female patient B) a female relative of a male patient C) a male relative of a female patient D) a male relative of a male patient
C
Please select the coping style which is best represented by the counselee: The genetic counselor is meeting with a mother of a child with multiple congenital anomalies. After her initial grief, she now states the child is a gift which will help her to become a stronger person and allow her the opportunity to provide the best care and environment for a child severe medical problems. A) Accept responsibility B) Distancing C) Positive reappraisal D) Seek social support
C
The correct term for increased anterior-posterior length of the head is: A) Brachycephaly B) Cephalotaxus C) Dolichocephaly D) Microcephaly
C
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) Denial B) Despair C) Guilt D) Shame
C
The trinucleotide repeat in the paternal allele is the one that usually expands in: A) Fragile X syndrome B) Friedreich ataxia C) Huntington disease D) Myotonic dystrophy
C
A 2 month-old female child presents to genetics clinic with a history of a prenatally diagnosed cardiac rhabdomyoma, 1 café-au-lait spot on the left thigh, and seizures. The ONE most likely diagnosis for this child is: A) Incontinentia Pigmenti B) Neurofibromatisis I C) Rett syndrome D) Tuberous sclerosis
D
A newborn baby is being evaluated in the metabolic clinic because his newborn screening report states that the level of phenylalanine is out of the normal range. The child is confirmed to have one copy of the R408W mutation. What should be the first information to convey to his parents? A) Newborn screening has been done for many years in this country B) PKU can be well controlled with a managed diet C) PKU was the first condition assessed with newborn screening D) Screening tests are not diagnostic; confirmatory testing is required
D
A woman has an ultrasound evaluation that reveals the fetus has caudal regression. Which of the following maternal conditions is most closely associated with this birth defect? A) Epilepsy B) High blood pressure C) HIV D) Type I diabetes
D
Given the general population carrier frequency of 1 in 25, what is the chance that a woman will will have a child with Cystic Fibrosis if her brother's son is diagnosed? There is no other family history of CF. A) Cannot be determined B) 1/100 C) 1/150 D) 1/200
D
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. A twenty year old man recently diagnosed with this syndrome asks you about the risk of having a child with the same condition. What would you tell this man during the genetic counseling session? A) Let's talk about your reproductive options when you are ready to start a family B) Most patients are not concerned about passing this condition on to their children. C) Prenatal diagnosis for this condition is available D) You do not have to worry about passing this condition on to your children; it is only inherited from mothers
D
Which of the following disorders is not associated with uniparental disomy? A) Angelman syndrome B) Beckwith-Weidemann syndrome C) Russel-Silver syndrome D) Sotos syndrome
D