Course Post Test
A. 0%
***Refer to image 1 on post test supplemental sheet 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%
C. Osteosarcoma
A 12-year-old girl is referred to the genetics clinic because of a childhood history of bilateral retinoblastoma. Due to her treatment in infancy with bilateral external beam radiotherapy, which of the following additional cancers is she MOST likely to develop? A. Breast cancer B. Leukemia C. Osteosarcoma D. Pineal blastoma
D. Alagille syndrome
Identify which of the following disorders is not thought to be caused by uniparental disomy in some cases. A. Beckwith-Weidemann syndrome B. Russell-Silver syndrome C. Angelman syndrome D. Alagille syndrome
D. There is no evidence for an increased recurrence risk.
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.
D. Duchenne muscular dystrophy.
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.
D. The gamma to beta-globin switch is not complete until several months after birth.
Severe beta-thalassemia may not become clinically apparent until a child is several months old because A. Alpha-globin genes do not turn on until several months after birth. B. Elevated hemoglobin A2 compensates for the missing beta-globin genes. C. The oxygen needs of a newborn are minimal. D. The gamma to beta-globin switch is not complete until several months after birth.
B. Characterized by loss of anterior horn cells in the spinal cord.
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.
C. Cardiomyopathy.
The biggest health concern for female carriers of Duchenne muscular dystrophy is: A. Proximal muscle weakness. B. Elevated CK levels. C. Cardiomyopathy. D. Autoimmune disease.
A. Autonomy
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
A. Topical
The fetus is exposed to the least amount of a medication through which route of administration? A. Topical B. Intravenous C. Inhalation D. Oral
A. Guilt
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
D. Maternal age.
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.
D. Always
The participant in a research study can _____________ withdraw from the study without penalty A. Never B. Occasionally C. Usually D. Always
B. 10%
What percentage of individuals with 22q11.2 deletion have an inherited familial mutation? A. 5% B. 10% C. 25% D. 100%
B. Tay-Sachs disease
When providing genetic counseling for carrier testing of Ashkenazi Jewish genetic diseases, it is important for the genetic counselor to inform the patient of the possibility of detecting an adult onset form of which disorder(s)? A. Cystic fibrosis B. Tay-Sachs disease C. Bloom syndrome D. All of the above
B. Trisomy 21
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
D. All of the above
Which of the following is an issue to consider when providing counseling for pre-symptomatic testing in an adult? A. Current emotional well-being B. Coping strategies C. What will be done with a positive or negative result D. All of the above
D. Liver transplantation for galactosemia.
Which of the following is not a possible treatment for the listed metabolic disorder? A. Bone marrow transplant for mucopolysaccharidosis type 1 (Hurler syndrome). B. Enzyme replacement therapy for Gaucher disease type 1. C. Dietary restriction for phenylketonuria. D. Liver transplantation for galactosemia.
C. Cystic hygroma
Which of the following isolated prenatal ultrasound findings is most likely due to a chromosomal abnormality? A. Duodenal atresia B. Choroid plexus cyst C. Cystic hygroma D. Diaphragmatic hernia
C. Alternative splicing
***Refer to image 2 on post test supplemental sheet 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
D. 1/2
***Refer to image 3 on post test supplemental sheet A trait has a population frequency of 1 in 40,000. Assuming the most likely mode of inheritance as shown in the pedigree, what is the probability that the proband's daughter has inherited the familial mutation? A. 0 B. 1/200 C. 1/100 D. 1/2
D. Cerebral calcifications.
Anticonvulsant embryopathy includes all of the following features except: A. Long philtrum. B. Neural tube defect. C. Fingernail hypoplasia. D. Cerebral calcifications.
A. 70%
Approximately what percentage of balanced reciprocal translocations are inherited? A. 70% B. 20% C. 90% D. 5%
D. Chest wall deformity.
Pectus excavatum is a A. Type of scoliosis. B. Neurological condition. C. Foot deformity. D. Chest wall deformity.
B. Paternal inheritance of the CAG repeat expansion.
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.
D. Sotos syndrome
Which of the following is NOT known to be associated with mutations in the PTEN gene? A. Bannayan-Riley-Ruvacalba syndrome B. Proteus syndrome C. Cowden syndrome D. Sotos syndrome
A. Ask your client to tell you the "story" of what brings her in for genetic counseling.
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.
D. Normalization.
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.
A. Cornelia de Lange syndrome
You see a child in clinic with bushy eyebrows, micromelia, microcephaly, and a hoarse voice. The child is most likely to have: A. Cornelia de Lange syndrome B. Fetal alcohol syndrome C. Noonan syndrome D. Williams syndrome
B. Serum ammonia level
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
B. Engage the husband in the decision-making process.
A 22 year old woman who is 20 weeks pregnant had a fetal ultrasound which showed spina bifida and slightly enlarged cerebral ventricles. After the genetic counselor discusses the possible diagnosis and the unpredictability of the outcome, the woman expresses her reluctance to terminate the pregnancy. Her husband remains very quiet and says that he will go along with his wife's decision. Which is the BEST approach for the genetic counselor to take? A. Support the woman's decision. B. Engage the husband in the decision-making process. C. Refer the couple for family therapy. D. Suggest that the couple continue this discussion at home.
C. 1/6
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. <1%
D. Request a copy of the nephew's karyotype.
A 27-year-old woman who is 9 weeks pregnant has a nephew with Down syndrome. The woman is concerned about the risk to her current fetus. Which of the following is the BEST first step in counseling this woman about her risk? A. Karyotype her to determine whether she has a translocation. B. Offer her prenatal diagnosis. C. Recommend she have serum screening and fetal ultrasound. D. Request a copy of the nephew's karyotype.
B. 46, XY
A 35 year old woman seeking prenatal first trimester screening undergoes a measurement of the fetal nuchal translucency. The results indicate a measurement 2x the normal range. What is the most likely karyotype given this information? A. 45, X B. 46, XY C. 47, XX, +21 D. 47, XXY
C. Explain that she does not meet diagnostic criteria and recommend an affected relative have DNA testing.
A 35-year-old woman comes for genetic counseling because of a family history of polycystic kidney disease (PKD) consistent with autosomal dominant inheritance and confirmed by review of medical records. Genetic testing has not been performed. The woman's renal ultrasound showed a single unilateral kidney cyst. The patient states, "Now that I have PKD, my children are at 50% risk to have it, too. They need to have DNA testing." Which of the following is the BEST response to the patient's statement? A. Agree that she meets diagnostic criteria and recommend her children have DNA testing. B. Agree that she meets diagnostic criteria and recommend her children have renal ultrasounds. C. Explain that she does not meet diagnostic criteria and recommend an affected relative have DNA testing. D. Explain that she does not meet diagnostic criteria and recommend she have DNA testing.
C. "My sister is not at increased risk for breast cancer."
A 35-year-old woman, recently diagnosed with an invasive ductal carcinoma of the breast, comes for genetic counseling with her 30-year-old sister. Their mother died of breast cancer at age 52 and was the only other affected relative. To determine the risk to her daughter, the woman has comprehensive BRCA1 and BRCA2 genetic testing with negative results. Which of the following statements by this patient should make the counselor MOST concerned that she does not fully understand these results? A. "I am not at significantly increased risk for ovarian cancer." B. "My daughter will not need to have BRCA testing." C. "My sister is not at increased risk for breast cancer." D. "I am considering bilateral mastectomy."
C. MSH2
A 45-year-old man comes to your office with a history of stage I colon cancer. The patient's father was diagnosed at age 49 with colon cancer, and his brother (the patient's uncle) also had colon cancer diagnosed at age 47. The patient's grandmother had endometrial cancer diagnosed at age 51. This patient most likely has a defect in which of the following genes? A. TP53 B. APC C. MSH2 D. A reciprocal translocation involving chromosomes 8 and 14, t(8;14)
C. Previous chemotherapy treatment.
A 50 year old female is referred for genetic counseling for her recent diagnosis of uterine cancer. When collecting the medical history, the genetic counselor learns that the woman had been diagnosed with colon cancer at age 40 and was treated at the same institution. She has no family history of cancer and no siblings or children. Her parents are deceased. What issue would be least important for the genetic counselor to consider in this case? A. Availability of pathology reports documenting the specific type of colon cancer. B. Length of time hospital pathology department maintains tumor tissue. C. Previous chemotherapy treatment. D. Ages at death for patient's parents.
C. Mosaic trisomy 18.
A child is born to a 23-year-old mother with no known medical problems. He is small for gestational age, has overlapping fingers and abnormal arch patterns on his finger pads, microcephaly, and hydronephrosis. He is MOST likely to have the genetic pattern: A. Mosaic trisomy 8. B. Mosaic trisomy 13. C. Mosaic trisomy 18. D. Mosaic trisomy 21.
B. A female relative of a male patient.
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.
D. Li-Fraumeni syndrome.
A family history significant for sarcomas, brain tumors, leukemia, and breast cancer diagnosed in the 20s is most suggestive of what? A. Hereditary breast and ovarian cancer. B. These tumors are not related. The family does not have a hereditary cancer syndrome. C. Peutz-Jeghers syndrome. D. Li-Fraumeni syndrome.
A. Confrontive.
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.
A. Discuss strategies for talking about this diagnosis with girls her age.
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.
C. Confidentiality.
A genetic counselor working with multiple individuals from the same family accidentally mentions that she has met with another relative while collecting the family history. This is a violation of that relative's A. Autonomy. B. Consent. C. Confidentiality. D. Privacy.
C. Sweat test results can be lower in newborns but the genetic test results will not change.
A newborn baby has been referred to the genetics clinic because he had a positive newborn screening result genetically diagnosing Cystic Fibrosis (CF). The baby's pediatrician ordered a sweat test that was reported as low or normal Cl- 30 meg/l. His mother is now convinced that her son does not have CF because his sweat test result was normal. When counseling this family what would you tell them FIRST? A. CF is a variable condition. B. The baby will develop symptoms of CF shortly including respiratory disease. C. Sweat test results can be lower in newborns but the genetic test results will not change. D. Both parents should pursue CF carrier testing.
C. Holoprosencephaly.
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.
B. Escape-avoidance
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
B. Urology report confirming that he has vas deferens and a normal sperm count.
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. Repeat sweat test report that is 55meq/l of Cl-. B. Urology report confirming that he has vas deferens and a normal sperm count. C. Normal pancreatic enzyme levels. D. Genetic testing report that identified only one CFTR mutation (W1282X).
C. Nonmaleficence
A young woman in the end stages of ovarian cancer requests genetic testing. Her doctor orders a breast cancer panel and a mutation in the BRCA2gene is identified. She passes away before the results are obtained. Her husband, as next of kin is contacted by his wife's physician for results disclosure. He states that he does not want to know if his wife's results and he refuses to give his permission to release the results to his wife's biological sister. The physician, never the less feels obligated to warn his patient's sister in order to prevent harm. The physician is most likely following which ethical principle? A. Autonomy B. Paternalism C. Nonmaleficence D. Maleficence
C. This must be very upsetting for you. Can you tell me more about what happened when you disclosed your results to your daughter?
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.
D. Transthoracic echocardiogram.
All of the following are invasive cardiac tests except: A. Heart catheterization. B. Intracardiac pressure measurement. C. Transesophageal echocardiogram. D. Transthoracic echocardiogram.
B. It is the second most common cause of dementia.
All of the following are true about Alzheimer disease except: A. Advancing age is the number 1 risk factor. B. It is the second most common cause of dementia. C. It is divided into early onset and late onset diagnoses. D. Presymptomatic testing is available.
A. Clarifying
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
B. Wait to discuss further testing options and their diagnostic yield with your patient.
BRCA testing was initiated in your patient due to a family history suggestive of hereditary breast and ovarian cancer. Because your patient is Ashkenazi Jewish, you ordered testing for the 3 most common mutations in the Ashkenazi Jewish population; and no mutation was detected. What is the BEST choice for your next step with regard to testing before disclosing the results? A. Order complete sequencing of BRCA1 and BRCA2. B. Wait to discuss further testing options and their diagnostic yield with your patient. C. Order sequencing of the TP53 gene. D. Order testing for large rearrangements in BRCA1 and BRCA2 .
D. All of the above
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
B. Uniparental disomy of chromosome 16 resulting in growth retardation.
Chromosomal microarray can diagnose: A. A balanced translocation disrupting the SCN1A gene resulting in epilepsy. B. Uniparental disomy of chromosome 16 resulting in growth retardation. C. A single base pair substitution in the FGFR3 gene resulting in achondroplasia. D. The trinucleotide repeat expansion causing Huntington disease.
B. Pancreatic sufficient
Class IV and V mutations retain partial function in CFTR . Those individuals who have Class IV and V mutations are more likely to be: A. Pancreatic insufficient B. Pancreatic sufficient C. Born with meconium ileus D. Diagnosed by Newborn Screening
D. Fever.
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.
C. 1 in 6
Developmental disability is a common diagnosis in the United States. What percentage of children are diagnosed with a developmental disability according to the CDC in 2015? A. 1 in 20 B. 1 in 15 C. 1 in 6 D. 1 in 3
D. Early onset Alzheimer disease.
Exome sequencing can detect: A. Facioscapulohumeral Dystrophy. B. Charcot Marie Tooth type 1A. C. Myotonic Dystrophy. D. Early onset Alzheimer disease.
A. Multiple endocrine neoplasia type II A
For which of the following disorders would diagnostic genetic testing of a child be of potential benefit for early treatment and management? A. Multiple endocrine neoplasia type II A B. MUTYH-associated polyposis C. Hereditary breast and ovarian cancer syndrome D. All of the above
C. Protective advantage.
G6PD deficiency is common in African, Mediterranean, and Asiatic populations in which malaria has been endemic. Multiple different mutations have been found in different populations. This high frequency of G6PD mutations is best explained by A. Genetic drift. B. The mild phenotype of G6PD deficiency. C. Protective advantage. D. Founder effect.
A. PTPN11 and SOS1 gene testing will not detect all cases of Noonan syndrome. You have not confirmed, nor have you ruled out, a diagnosis of Noonan syndrome.
Gene testing of PTPN11 and SOS1 by sequence analysis is completed in a child suspected to have Noonan syndrome. No mutation is detected. Which of the following is the MOST important that the parents understand? A. PTPN11 and SOS1 gene testing will not detect all cases of Noonan syndrome. You have not confirmed, nor have you ruled out, a diagnosis of Noonan syndrome. B. The child definitely has either Noonan syndrome, Costello syndrome, or Cardiofaciocutaneous syndrome. C. The results are unreliable because there may have been an error at the laboratory. D. You have ruled out Noonan syndrome as a possible diagnosis.
C. Familial hypercholesterolemia
Haploinsufficiency best explains which of the following conditions? A. Beta thalassemia major B. Sickle cell anemia C. Familial hypercholesterolemia D. Testicular feminization
C. Orthopedic
Huntington disease is characterized by the following clinical features except: A. Cognitive B. Movement C. Orthopedic D. Psychiatric
A. Anticipatory guidance
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
D. Maternal exposures during pregnancy, particularly alcohol.
In the pediatric genetics clinic, you meet with the parents of a 2-year-old child with: growth deficiency, microcephaly, developmental delay, and dysmorphic features including: a smooth/flat philtrum, thin upper lip, short palpebral fissures, and a low nasal root. These features suggest, but do not confirm, a particular diagnosis. What is the MOST important component of the pregnancy and past medical history to help determine if your suspected diagnosis is correct? A. Current list of medications for the child. B. Feeding history. C. Delivery APGAR scores. D. Maternal exposures during pregnancy, particularly alcohol.
C. Scoliosis.
Individuals with Marfan syndrome are at increased risk for A. Hearing loss. B. Short stature. C. Scoliosis. D. Macrocephaly.
A. Decreased LV volume.
Individuals with dilated cardiomyopathy can generally present with all of the following except: A. Decreased LV volume. B. Edema. C. Fatigue. D. Increased LV volume.
D. 5 rads
Ms. Jones had dental x-rays before she learned that she was pregnant. Her dentist was concerned and suggested seeing a genetic counselor. At the counseling session the genetic counselor explained that the amount of radiation that causes a prenatal exposure concern is above: A. 1 millirad B. 10 millirads C. 1 rad D. 5 rads
A. Uniparental disomy at chromosome region 11p15
Of the following, which is the most likely etiology for a premature infant with macrosomia, macroglossia, omphalocele, and hypoglycemia? A. Uniparental disomy at chromosome region 11p15 B. Chromosomal deletion of 18p C. Uniparental disomy at chromosome region 15q11-q13 D. Chromosomal deletion at 22q11.2
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.
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.
C. Refer the family for mental health services.
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 the family to an internet site with information about Angelman syndrome. C. Refer the family for mental health services. D. Shift attention to the mother to determine how she is coping.
C. 45,XY,der(21;21)(q10;q10)
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)
C. Bradycardia
This term is used to describe a slow heart beat: A. Long QT interval B. Tachycardia C. Bradycardia D. Atrial Fibrillation
B. Can opt out of receiving genetic test results.
Under the Genetic Information Nondiscrimination Act of 2008 ( GINA ), individual subjects engaged in genetics research: A. Can obtain genetic test results. B. Can opt out of receiving genetic test results. C. Must notify their employer of genetic test results. D. Must inform their health insurance company of their individual test results.
C. Hypocalcemia, congenital heart defect, immunodeficiency
What is the typical triad of features associated with 22q 11.2 deletion syndrome? A. Hypocalcemia, cleft palate and congenital heart defect B. Congenital heart defect, cleft palate and immunodeficiency C. Hypocalcemia, congenital heart defect, immunodeficiency D. Hypocalcemia, congenital heart defect and psychiatric disorders
D. Prepare an agenda before meeting with the client, and do not deviate from it.
Which is NOT a helpful technique or consideration when counseling/educating adults? A. Approach the client as a partner in the learning process. B. Permit the client to help dictate the direction of learning. C. Build upon the client's prior knowledge. D. Prepare an agenda before meeting with the client, and do not deviate from it.
D. MPSIII (Sanfilippo syndrome)
Which mucopolysaccharidosis do you suspect in a child with a neurodegenerative course, significant behavior and sleep problems, and heparan sulfate (no dermatan sulfate in the urine)? A. MPSI (Hurler syndrome) B. MPSVI (Maroteaux Lamy syndrome) C. MPSIV (Morquio syndrome) D. MPSIII (Sanfilippo syndrome)
D. It takes a short time to perform.
Which of the following characteristics is more likely to be true of a screening test than a diagnostic test? A. It is expensive. B. It can take several weeks to get the results. C. It can have some risk to the patient. D. It takes a short time to perform.
D. Smith-Lemli-Opitz syndrome
Which of the following disorders is high on your differential diagnosis in a newborn with ambiguous genitalia, microcephaly, syndactyly of the second and third toes, an atrial septal defect, feeding problems, and irritable behavior? A. Smith-Magenis syndrome B. Aarskog syndrome C. CHARGE syndrome D. Smith-Lemli-Opitz syndrome
D. Fragile X syndrome
Which of the following disorders would not require counseling about the potential risk for malignancy or tumor development? A. Beckwith-Weidemann syndrome B. Klinefelter syndrome C. Turner syndrome D. Fragile X syndrome
D. Choroid plexus cyst
Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21? A. Nuchal thickening B. Duodenal atresia C. Echogenic bowel D. Choroid plexus cyst
D. All of the above
Which of the following features identified by prenatal ultrasound are suggestive markers for 22q 11.2 deletion syndrome? A. Absent thymus B. Congenital heart defect C. Polyhydramnios D. All of the above
A. Trisomy 18
Which of the following findings is most likely associated with a multiple marker screen of low MSAFP, low hCG, low estriol (uE3), and low inhibin A? A. Trisomy 18 B. Trisomy 21 C. Intrauterine fetal demise D. Gestational age less than dates
A. When working with couples, posing questions to only one of the clients, which helps prevent other client's agenda from interfering with the session.
Which of the following is NOT an appropriate interviewing technique for a genetic counseling session? A. When working with couples, posing questions to only one of the clients, which helps prevent other client's agenda from interfering with the session. B. Asking closed-ended questions, which clarify specific details. C. Rephrasing, which allows the counselor to clarify that both he/she understands the client's concern. D. Asking open-ended questions, which invite the client to indicate what is relevant to them.
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."
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."
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.
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.
A. Language is the only cultural barrier to communication in the medical setting.
Which of the following is not a true statement regarding multiculturalism? A. Language is the only cultural barrier to communication in the medical setting. B. To develop multiculturalism it is important to be aware of one's own cultural heritage. C. Belief systems of a specific cultural group do not apply to all individuals in that cultural group. D. It is important to clarify the word "family" for the counselor and patient as this term may have a different meaning to each culture.
B. Medium chain acyl CoA dehydrogenase deficiency
Which of the following metabolic disorders is exacerbated by prolonged fasting? A. Wilson disease B. Medium chain acyl CoA dehydrogenase deficiency C. Zellweger syndrome D. Fabry disease
C. inv(5)(p14p12.2)
Which of the following parental chromosome abnormalities would be least likely to result in a liveborn offspring with an abnormal phenotype assuming the other partner has a normal karyotype? A. del22q11.2 B. inv(3)(p25q21) C. inv(5)(p14p12.2) D. t(3:11)(q12;p15.5)
C. Marker chromosome
Which of the following prenatally identified chromosomal abnormalities has the greatest risk for an abnormal offspring? A. Balanced Robertsonian translocation B. Inversion C. Marker chromosome D. Reciprocal chromosome translocation
A. Low PAPP-A, high hCG, increased NT
Which of the following results would be expected in a first trimester pregnancy at highest risk for Down syndrome? A. Low PAPP-A, high hCG, increased NT B. High PAPP-A, low hCG, increased NT C. Low PAPP-A, high hCG, normal NT D. High PAPP-A, high hCG, increased NT
A. The frequency of the disease is the square root of the gene frequency.
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.
D. Massively parallel sequencing
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
D. All of the above
Which of the following would be appropriate to consider in the differential for a child with isolated pheochromocytoma? A. Von Hippel Lindau B. Multiple Endocrine Neoplasia type 2 C. Neurofibromatosis type 1 D. All of the above
C. Test for all three common mutations seen in the Ashkenazi Jewish population, because they are so common it is possible to have a mutation on both the maternal and paternal side of the family.
Your patient has Ashkenazi Jewish ethnicity on both the maternal and paternal side of her family. Her paternal aunt had BRCA testing and was found to have the 5382insC mutation in BRCA1 , and her father lived to 80 years and never developed cancer. If your patient desires testing, testing for which mutation(s) would be BEST? A. The 5382insC mutation, because that is the mutation seen in her family. B. The 5382insC mutation and 185delAG, because those mutations are both found in BRCA1 . C. Test for all three common mutations seen in the Ashkenazi Jewish population, because they are so common it is possible to have a mutation on both the maternal and paternal side of the family. D. Testing is unnecessary, because her father lived to old age without developing cancer. If your patient were to inherit the 5382insC mutation, it would have to come from him, which is virtually impossible.
C. Ornithine transcarbamoylase deficiency
36 hours after birth, a term male infant presents post seizure. The infant appeared well at birth but on the second day of life developed irritability, vomiting, feed refusal, and becomes increasingly lethargic. Blood gas analysis shows a respiratory alkalosis and plasma ammonia concentrations are found to be 360 micro-m/l (normal for a full term infant is <50 micro-m/l). Which of the following is most consistent with these symptoms? A. Branched-chain alpha-ketoacid dehydrogenase complex deficiency B. Glucose 6-phosphatase deficiency C. Ornithine transcarbamoylase deficiency D. Phenylalanine hydroxylase deficiency
D. Mutations in a gene that repairs the damage to DNA caused by ultraviolet light
A 2 year old boy was admitted with tumors on his head, face, and tongue. Surgical removal was done, and histology showed two different types of malignancies: a squamous cell carcinoma on the right temporal area and a squamous-basal (mixed) carcinoma on the right nostril. There was no lymph node enlargement. 9 months earlier, he had a benign lesion excised from his head. He was diagnosed with xeroderma pigmentosum, a rare autosomal recessive condition. Which of the following is the molecular cause of xeroderma pigmentosum? A. A deficiency of the enzyme steroid sulfatase B. A deficiency of the enzyme tyrosinase C. Mutations in the gene, encoding the protein neurofibromin D. Mutations in a gene that repairs the damage to DNA caused by ultraviolet light
A. Ask them what they have been told about CMT.
A 20-year-old man and his family are seen for genetic counseling to discuss his recent diagnosis of Charcot-Marie-Tooth (CMT) disease. After introductions, which of the following would be the BEST next step for the genetic counselor to take? A. Ask them what they have been told about CMT. B. Collect a family and medical history. C. Explain the recurrence risks of CMT. D. Review the results of his genetic testing.
