ABGC Practice Test 1 - 02/2015

D. Explain that she and all of her children are at risk.

A 25yearold woman comes for genetic counseling due to her family history of SCA type III. She is interested in preimplantation genetic diagnosis (PGD). She states that she will only have female embryos implanted because she does not want any of her children to have the condition. Which of the following is the BEST way to counsel the patient? A. Explain that none of her children will be affected. B. Agree that only her male children are at risk but explain that PGD is not offered for adult onset conditions. C. Agree with her that only her male children are at risk and help arrange PGD. D. Explain that she and all of her children are at risk.

B. II:4

A 30yearold woman with a family history of breast cancer comes to the genetics clinic for BRCA1 and BRCA2 testing. Her family history is shown below. To clarify the woman's risk, which of the following individuals should be tested FIRST? A. II:2 B. II:4 C. III:1 D. III:3

D. Down syndrome

A genetic counselor reviews the following pedigree. The pregnancy in the pedigree shown above is at greatest risk for which of the following? A. Becker muscular dystrophy B. achondroplasia C. cystic fibrosis D. Down syndrome

B. adoption out by a relative

A genetic counselor reviews the pedigree below. Which of the following BEST describes what the pedigree illustrates? A. surrogacy B. adoption out by a relative C. conception by donor egg D. consanguinity

A couple who are first cousins inquire about the chance of having a child affected with a genetic disorder. Their common maternal uncle has galactosemia. The chance that they will have child with galactosemia is

A. 1/8. B. 1/16. C. 1/36. D. 1/64.

A 50yearold woman tests negative for a familial mutation in the BRCA1 gene. She plans to discuss ovary removal with her gynecologist because she believes her risks are still high. The genetic counselor should clarify that the woman's lifetime risk of ovarian cancer is closest to A. 2%. B. 10%. C. 40%. D. 50%.

A. 2%.

Under the HIPAA privacy rule, which of the following is considered protected health information (PHI) for use in a research study database? A. 5digit zip code B. year of birth C. gender D. age of disease onset

A. 5digit zip code

A 13yearold girl comes to the genetics clinic because of frequent nosebleeds. When taking the family history, which of the following is the MOST important for the genetic counselor to elicit? A. gastrointestinal bleeds B. varicose veins C. hearing loss D. renal carcinoma

A. gastrointestinal bleeds

A 4yearold girl is referred to the genetics clinic to be evaluated because she may have fragile X syndrome. During the appointment, the patient's mother provides information on the family history. Which of the following statements about her daughter's family history is MOST suggestive of fragile X syndrome? A. "Her maternal grandmother went through menopause early." B. "Her paternal grandfather and his brother have tremors." C. "Her father completed the 9th grade and then dropped out." D. "Her maternal uncle has a son with autism."

A. "Her maternal grandmother went through menopause early."

A woman is seen for prenatal genetic counseling due to an abnormal maternal serum screen. The counselor notes that the patient is frequently tearful and seems to have trouble concentrating. The patient says that she "Just can't sleep." Which of the following is the BEST initial response from the counselor? A. "Tell me more about how you have been feeling before and during the pregnancy." B. "Would you consider meeting with a psychiatrist for evaluation of your sadness?" C. "It is normal to feel down or even depressed after hearing about this kind of result." D. "Who have you turned to for emotional support since hearing about the test result?"

A. "Tell me more about how you have been feeling before and during the pregnancy."

A 38yearold woman with breast cancer comes for genetic counseling. Her mother died of ovarian cancer at age 35. The woman states that she is fearful her 19yearold daughter will develop cancer and wants to know what testing options are available. Which of the following is the genetic counselor's BEST response? A. "To accurately determine your daughter's risk for cancer, you must have genetic testing first." B. "To confirm your mother's diagnosis, we need a copy of her pathology report." C. "It's understandable to worry about your daughter; we can test her because she is an adult." D. "My daughter is also at risk for a BRCA2 mutation, and I worry about her too."

A. "To accurately determine your daughter's risk for cancer, you must have genetic testing first."

A newborn male with hydrocephalus, microtia, and a ventricular septal defect is referred to the genetics clinic. His mother had been treated for cystic acne, but she reports that she stopped taking all medicines when she learned she was pregnant. When obtaining the pregnancy history, which of the following is MOST important to ask? A. "What medications were you prescribed, and when did you stop taking them?" B. "What medications were you prescribed, and how long did you take them prior to conception?" C. "Did you have to go on a special diet prior to pregnancy?" D. "Did you have fever or flulike symptoms in early pregnancy?"

A. "What medications were you prescribed, and when did you stop taking them?"

A 28yearold pregnant woman comes for genetic counseling because the father of her female fetus has myoclonic epilepsy with ragged red fibers (MERRF). The risk that this fetus is affected with MERRF is closest to which of the following percentages? A. 0% B. 25% C. 50% D. 100%

A. 0%

A man comes for genetic counseling with his two daughters, ages 12 and 17. Their mother died of breast cancer at age 39 and had a BRCA1 mutation. The father wants his daughters to be tested for the mutation. Which of the following is the BEST next step by the genetic counselor? A. Ask the father about his motivation for requesting genetic testing of his daughters. B. Discuss with the father the options for medical management should breast cancer arise in his daughters. C. Explain the insurance implications of a positive result. D. Arrange genetic testing for the 17yearold daughter.

A. Ask the father about his motivation for requesting genetic testing of his daughters.

A 30yearold woman comes for genetic counseling to discuss her recent presymptomatic testing for Huntington disease (HD), which was negative. Her mother was diagnosed with HD at age 36, and her deceased maternal grandmother was diagnosed with HD at age 40. Neither had DNA testing. Which of the following is MOST important to discuss with the woman? A. Confirmatory DNA testing of her mother is needed. B. Her mother and grandmother did not have HD. C. She could still develop HD because of anticipation. D. She did not inherit the familial condition.

A. Confirmatory DNA testing of her mother is needed.

A 25yearold pregnant woman comes for genetic counseling and amniocentesis because her father had Becker muscular dystrophy (BMD). Ultrasonography shows a male fetus. Her father's mutation is known. Test results show that neither the woman nor her fetus carries the BMD mutation. The woman is not aware that her father is not her biological father. Which of the following is the BEST course of action for the genetic counselor? A. Consult with the ethics review board regarding the best course of action. B. Tell the woman that the results indicated that her fetus is not affected. C. Arrange a session for the woman and her mother to discuss nonpaternity. D. Contact the woman's obstetrician with the test results, and let him inform her.

A. Consult with the ethics review board regarding the best course of action.

A couple whose child had a positive newborn screen for galactosemia is seen for genetic counseling. Followup testing showed slightly reduced GALT enzyme activity, gal1p and galactitol levels within normal limits, and one copy of the Q188R mutation in the GALT gene. Which of the following is MOST important to discuss with the parents? A. Explain that screening tests are not diagnostic. B. Recommend the enzyme studies be repeated. C. Discuss the management of galactosemia. D. Describe the purpose of newborn screening.

A. Explain that screening tests are not diagnostic.

A 32yearold pregnant woman is referred for genetic counseling at 6 weeks gestation because of alcohol exposure. She explains that she drank several alcoholic beverages daily for one week during her honeymoon 4 weeks ago. She expresses concern that this exposure will cause fetal alcohol syndrome (FAS). Which of the following is the BEST response to this patient? A. Reassure her that the risk for FAS is not increased given the timing of the exposure. B. Reassure her that the risk for FAS is not increased given the limited duration of the exposure. C. Confirm that there is an increased risk for FAS since there is no known safe amount of alcohol consumption during pregnancy. D. Confirm that there is an increased risk for FAS and probably other birth defects because organogenesis has begun.

A. Reassure her that the risk for FAS is not increased given the timing of the exposure.

A 35yearold woman comes for genetic counseling after recently learning her sister has an MSH2 mutation. The woman wants testing for the familial mutation for herself and her three schoolage children. Which of the following issues is MOST important to discuss regarding testing the woman's children? A. autonomy B. beneficence C. nonmaleficence D. justice

A. autonomy

A 2yearold boy is being evaluated in the genetics clinic because of a dilated aortic root. Comprehensive testing of FBN1 showed no abnormalities. Discovery of which of the following features would be consistent with the MOST likely diagnosis? A. bifid uvula B. microtia C. horseshoe kidney D. polydactyly

A. bifid uvula

A 37yearold woman comes to the clinic for amniocentesis at 16 weeks gestation. Fetal karyotype shows an extra de novo marker chromosome derived from chromosome 22. The fetus may be at risk for which of the following syndromes? A. cateye syndrome B. velocardiofacial syndrome C. PallisterKillian syndrome D. RussellSilver syndrome

A. cateye syndrome

A 2monthold boy with failure to thrive is seen in the genetics clinic for evaluation and counseling. He has poor suck, and his parents have to wake him to feed during the night. He has hypotonia and genital hypoplasia. Which of the following mechanisms is the MOST likely cause of this condition? A. chromosome deletion B. uniparental disomy C. imprinting mutation D. trinucleotide repeat

A. chromosome deletion

A 28yearold female is seen by a genetic counselor during her second pregnancy because she reports that her first pregnancy was diagnosed with thanatophoric dysplasia. No records are available to confirm this. In order to substantiate the diagnosis, it is BEST to ask whether the fetus had which of the following in addition to shortened limbs? A. cloverleaf skull B. fractures C. ambiguous genitalia D. polydactyly

A. cloverleaf skull

60yearold woman who was diagnosed with breast cancer at age 36 and ovarian cancer at age 50 is being seen for genetic counseling. Her mother was diagnosed with breast cancer at age 55; a maternal aunt was diagnosed with ovarian cancer at age 60; and a maternal first cousin was diagnosed with leukemia at age 20. The proband underwent comprehensive germline sequence analysis of BRCA1 and BRCA2 at the time of her ovarian cancer diagnosis with negative results. Which of the following additional genetic tests would be MOST appropriate for the proband to have? A. comprehensive germline large rearrangement analysis of BRCA1 and BRCA2 B. BRCA1 and BRCA2 promoter methylation analysis of either of her tumors C. comprehensive germline PTEN genetic testing D. P53 promoter methylation analysis of either of her tumors

A. comprehensive germline large rearrangement analysis of BRCA1 and BRCA2

When a supervisor and his student work collaboratively on a project with mutually agreedupon objectives and the focus is on the student's clients, which of the following roles is the supervisor using? A. consultant B. teacher C. counselor D. evaluator

A. consultant

The diagnosis of MeckelGruber syndrome is suspected in a stillborn fetus with multiple anomalies. Which of the following features is MOST significant in establishing this diagnosis? A. cystic renal disease B. renal agenesis C. occipital encephalocele D. postaxial polydactyly

A. cystic renal disease

A 38yearold African American woman comes for genetic counseling at 10 weeks gestation. She is not accompanied by her partner. She has a low mean corpuscular volume. Which of the following is the BEST next step for the counselor to recommend? A. hemoglobin electrophoresis, iron, and lead studies on the woman B. complete blood count on the woman C. complete blood count on her partner D. hemoglobin electrophoresis, iron, and lead studies on her partner

A. hemoglobin electrophoresis, iron, and lead studies on the woman

A 12yearold girl is referred for a genetic evaluation to rule out a syndrome after having been diagnosed with colon polyps. The abnormal results of which of the following would be MOST supportive of a diagnosis of familial adenomatous polyposis? A. ophthalmologic evaluation B. audiologic testing C. brain MRI D. abdominal ultrasound

A. ophthalmologic evaluation

A 25yearold pregnant woman comes for genetic counseling. Her screening results are positive for an increased risk for SmithLemliOpitz (SLO) syndrome. Her results are as follows: AFP = 1.00 MoM HCG = 0.95 MoM UE3 = 0.10 MoM INH = 1.10 MoM In addition to counseling the woman about SLO, which of the following should be discussed? A. steroid sulfatase deficiency B. trisomy 21 C. biotinidase deficiency D. trisomy 18

A. steroid sulfatase deficiency

A 5yearold boy with intellectual disability is referred for genetic evaluation. Family history reveals that his mother has a 30yearold maternal uncle whom she describes as "slow." Which of the following questions about the uncle should the genetic counselor ask FIRST to help assess the relevance of this history? A. "Where does he work?" B. "Does he look different from other family members?" C. "Does he have any children?" D. "How old was he when he said his first words?"

B. "Does he look different from other family members?"

The couple in the pedigree below comes for genetic counseling because their newborn son has an abnormal karyotype. 46, XY, i(21)(q10) The woman is 39 years old and her husband is 41 years old. Which of the following is closest to the recurrence risk for the condition? A. 0% B. 1% C. 50% D. 100%

B. 1%

A nonconsanguineous Caucasian couple is referred for genetic counseling. The woman's brother died of cystic fibrosis. The risk for the couple to have a child with cystic fibrosis is closest to A. 1/100. B. 1/150. C. 1/250. D. 1/400.

B. 1/150.

A woman comes for genetic counseling because of a family history of "muscle disease." She has two teenaged sons who appear healthy. Her 48yearold maternal uncle is barely ambulatory. Her sister's 17yearold son has muscle weakness and a serum creatine kinase level greater than 5000 U/L. No other family members are known to be affected. The woman's two sons have creatine kinase testing, and they both have levels less than 150 U/L. What is the woman's risk to be a carrier for the condition in her family? A. 10% B. 20% C. 40% D. 50%

B. 20%

A couple seeks counseling because their first child was born with a ventricular septal defect. There is no family history of any congenital heart disease, and the parents have normal cardiac examinations. They should be counseled that the risk that a subsequent child will have a similar or other cardiac defect is closest to A. less than 1%. B. 3-5%. C. 8-10%. D. 2-5%.

B. 3-5%.

Which of the following karyotypes is MOST consistent with a normal phenotype? A. 45,X B. 45,XX,t(13;15)(q10;q10) C. 46,X,der(X),t(X;5)(p31;p21) D. 46,XX,t(14;21)(q10;q10)+21

B. 45,XX,t(13;15)(q10;q10)

A couple comes for preconception genetic counseling because the woman had bilateral retinoblastoma. The husband asks about his wife's risks for developing the nonocular cancers associated with this disease. The counselor invites the woman to answer in an attempt to assess her level of understanding and perception of risk. She responds in anger, "Do you mind not talking about this?!" Which of the following is the MOST appropriate response by the genetic counselor? A. Explain that her reaction may be a healthy coping mechanism. B. Acknowledge her anger and ask her to elaborate on her reaction. C. Discuss information regarding her increased risk of additional cancers. D. Offer to talk to the husband later in private and redirect the conversation.

B. Acknowledge her anger and ask her to elaborate on her reaction.

A couple comes for genetic counseling because their child has a rare chromosome abnormality. Which of the following is the BEST first step? A. Inquire whether the couple has any background in science. B. Ask the couple what they understand about their child's condition. C. Proceed with the explanation and answer questions as they arise. D. Obtain a comprehensive family history.

B. Ask the couple what they understand about their child's condition.

A couple comes for genetic counseling because of advanced maternal age. The counselor notes that the father of the pregnancy has a large vertical scar on his upper lip. While taking the family history, the counselor asks both individuals if either has a history of birth defects, and they deny any such history. Which of the following is the BEST next step for the counselor to take? A. Inquire again about the history of birth defects on both sides of the family, using cleft lip as an example B. Ask the father about the scar on his lip, explaining that this information is essential for risk assessment C. Avoid embarrassing the father, and tell the couple that ultrasound can detect certain birth defects like cleft lip D. Tell the perinatologist about the scar, so she can ask the couple again about a history of birth defects.

B. Ask the father about the scar on his lip, explaining that this information is essential for risk assessment

A 45yearold man is referred for genetic counseling because he has pancreatic cancer. Review of his medical record indicates that he also had a melanoma. He is MOST likely to have a mutation in which of the following genes? A. BRCA1 B. CDKN2A C. PTEN D. TSC2

B. CDKN2A

A 40yearold pregnant woman and her husband come for genetic counseling to discuss amniocentesis. A previous pregnancy ended in the miscarriage of a fetus with trisomy 18. The woman is reluctant to undergo amniocentesis. Her husband is in favor of the procedure; however, he states that it is her decision because she is carrying the pregnancy. Which of the following is the BEST next step? A. Give the couple time alone to decide what they want to do. B. Facilitate a discussion between the couple about the decision. C. Initiate the informed consent process. D. Offer to review the risks and benefits of amniocentesis again.

B. Facilitate a discussion between the couple about the decision.

A 38yearold woman comes for genetic counseling because of an abnormal first trimester screen with an increased risk for fetal Down syndrome. She listens to the counselor explain the additional prenatal testing and screening options, and at the end tells the counselor, "I don't know what I should do." Which of the following is the BEST way for the counselor to approach this situation? A. Restate the testing and screening options in simpler terms. B. Inquire about how the patient has made difficult decisions in the past. C. Convince the woman that testing will clarify the risk. D. Explain why the choice for testing is entirely up to the patient.

B. Inquire about how the patient has made difficult decisions in the past.

During a genetic counseling session, a 27yearold woman is informed that she has a BRCA1 gene mutation. The woman does not seem distressed. She asks detailed questions about the molecular nature of the mutation, the cancer risks associated with the BRCA1 mutation, and the medical management options. She uses correct genetic and medical terminology such as "autosomal dominant Mendelian inheritance," "protein truncation," and "stop codon." This patient appears to be coping with the genetic test results using which of the following defense mechanisms? A. Denial B. Intellectualization C. Projection D. Reaction formation

B. Intellectualization

A 44yearold man with colon cancer comes for genetic counseling. He has no family history of cancer. His pathology report indicates that his tumor is MSIHigh with the following immunohistochemistry (IHC) results: MLH1 present MSH2 present MSH6 present PMS2 present During the preauthorization process, the genetic counselor learns that the patient will have to pay for followup molecular testing out of pocket and can afford testing for only two genes. In addition to MLH1, which of the following genes should be tested to identify the causative mutation? A. EPCAM B. MSH2 C. MSH6 D. PMS2

B. MSH2

A 3yearold girl is referred for a genetic evaluation. Her medical record states that she has several large café au lait spots, multiple longbone fractures, and recent onset of menstrual bleeding. Which of the following is the MOST likely diagnosis? A. Noonan syndrome B. McCuneAlbright syndrome C. neurofibromatosis D. osteogenesis imperfecta

B. McCuneAlbright syndrome

A woman who is seen for genetic counseling contacts the genetic counselor after the session. She states that she wants her history of two prior elective abortions removed from her medical record. After acknowledging her request, which of the following is the BEST response by the genetic counselor? A. Alter the record as requested. B. Tell her that the medical record cannot be altered. C. Forward her request to the medical records office. D. Suggest a followup session to discuss the matter.

B. Tell her that the medical record cannot be altered.

Which of the following individuals has the greatest risk of having a child with Down syndrome? A. a man who has t(14q;21q) B. a woman who has t(14q;21q) C. a woman who is 35 years old D. a woman who has a child with trisomy 21

B. a woman who has t(14q;21q)

Discussion of artificial insemination with donor sperm is MOST appropriate for couples who have a A. daughter with cleft lip and palate. B. daughter with limb girdle muscular dystrophy. C. son with Becker muscular dystrophy. D. son with KearnsSayre syndrome.

B. daughter with limb girdle

Which of the following firsttrimester screening patterns is most suggestive of trisomy 21? A. high free beta hCG, high PAPPA, nuchal translucency greater than 3 mm B. high free beta hCG, low PAPPA, nuchal translucency greater than 3 mm C. low free beta hCG, high PAPPA, nuchal translucency less than 3 mm D. low free beta hCG, low PAPPA, nuchal translucency less than 3 mm A. high free beta hCG, high PAPPA, nuchal translucency greater than 3 mm B. high free beta hCG, low PAPPA, nuchal translucency greater than 3 mm C. low free beta hCG, high PAPPA, nuchal translucency less than 3 mm D. low free beta hCG, low PAPPA, nuchal translucency less than 3 mm

B. high free beta hCG, low PAPPA, nuchal translucency greater than 3 mm

A pregnant woman whose son has ornithine transcarbamylase (OTC) deficiency comes for genetic counseling. A detailed ultrasound at 18 weeks shows a normal female fetus. Which of the following is the MOST important information to collect to assess risk in the current pregnancy? A. results of her partner's carrier testing B. maternal symptoms of hyperammonemia C. orotic acid and ammonia levels in her son D. maternal diet history

B. maternal symptoms of hyperammonemia

Usher syndrome is an autosomal recessive disorder that includes deafness and which of the following? A. anosmia B. retinitis pigmentosa C. goiter D. kidney disease

B. retinitis pigmentosa

A 35yearold healthy woman comes for genetic counseling for cancer risk assessment. Her mother died with breast cancer at age 43. Two maternal aunts and one maternal uncle are all cancerfree. Her maternal grandmother had stomach cancer in her 60s. The consultand's father is healthy at 55. The father's siblings are cancerfree, but his brother's daughter was diagnosed with cervical cancer in her 30s. The consultand's paternal grandfather had colon cancer in his 60s. Pathologic confirmation of which reported cancer will have the largest impact on the risk assessment for this consultand? A. breast cancer B. stomach cancer C. cervical cancer D. colon cancer

B. stomach

A 30yearold man is scheduled for genetic counseling because his maternal uncle recently died with Huntington disease. The man's mother died in a car accident at age 25. Which of the following should the counselor ask to BEST assess the patient's risk of developing HD? A. if any of the uncle's children have developed HD B. the age at which the uncle began having symptoms of HD C. the severity of the uncle's HD symptoms D. if the patient has experienced episodes of memory loss

B. the age at which the uncle

DNA testing for cystic fibrosis (CF) in a 25yearold Caucasian woman is negative. The test is able to identify 90% of CF carriers. The chance that the woman is a carrier is closest to A. 1/50. B. 1/100. C. 1/250. D. 1/500.

C. 1/250

The father and paternal grandfather of a 44yearold asymptomatic woman both died of Huntington disease (HD). Approximately 75% of people who have the expanded allele for HD show clinical signs of the disease by age 44. What is the woman's risk for HD? A. 1/2 B. 1/4 C. 1/5 D. 1/10

C. 1/5

A 17yearold pregnant woman and her partner come for genetic counseling at 10 weeks gestation because she has a clinical diagnosis of myotonic dystrophy (DM). She has not had genetic testing. The patient had difficulty in school and dropped out after ninth grade. After reviewing the range of severity of DM, the counselor offers her genetic testing to determine her chance of having a child with congenital DM, which she declines. She states that she does not like needles and would not mind having a child who is like her. Which of the following is the BEST response by the counselor to the woman's decision to decline testing? A. Explore the partner's feelings about the woman having genetic testing for DM. B. Support her decision to decline testing, and conclude the session. C. Ask her to describe her understanding of congenital DM. D. Encourage her not to base her decision for testing on a fear of needles.

C. Ask her to describe her understanding of congenital DM.

A 37yearold woman is referred to the adult genetics clinic to be evaluated for EhlersDanlos Syndrome (EDS) because she has a personal history of hypermobile joints, fibromyalgia, and inflammatory bowel disease. When the counselor is taking the family history, the woman says, "All these questions aren't important! What does this have to do with me?" Which of the following is the genetic counselor's BEST next step? A. Redirect to the goals of the session. B. Review the importance of obtaining the family history. C. Discuss her emotional response. D. Acknowledge that patients with EDS are usually anxious.

C. Discuss her emotional response.

A 40yearold woman with LiFraumeni syndrome comes for genetic counseling after testing confirms that she has a P53 mutation. Her asymptomatic 18yearold son is also found to have the same mutation. The mother repeatedly suggests that gene therapy should be available soon to repair the gene for her son and that perhaps his test should be repeated in case there was a mixup at the laboratory. A. Confrontive B. Distancing C. Escape avoidance D. Positive reappraisal

C. Escape avoidance

A 35yearold Jewish woman of Russian and Polish ancestry is referred for genetic counseling for ethnicbased carrier testing. She is MOST likely to be a carrier of which of the following conditions? A. Canavan disease B. Cystic fibrosis C. Gaucher disease D. TaySachs disease

C. Gaucher disease

A 55yearold woman with thyroid cancer is referred for genetic counseling. Her medical history includes surgical excision of a growth on her neck and excision of colon polyps at age 50. She was adopted, and her family history is not available. Which of the following would be the MOST compelling additional information to support testing for mutations in the PTEN gene? A. Her first son was born at 36 weeks gestation. B. The growth excised from her neck was a sarcoma. C. Her head circumference is above the 98th percentile. D. The polyps were hamartomas.

C. Her head circumference is above the 98th percentile.

A woman who was evaluated and diagnosed with facioscapulohumeral (FSH) muscular dystrophy 10 years ago calls to request general information to share with her new husband and his family. The couple is considering starting a family in the near future. Which of the following is the counselor's BEST response to the woman's request?

C. Offer genetic counseling to discuss new developments and resources.

While a genetic counselor is taking a family history, the patient reports that of her sister's four children, two have polydactyly, cognitive impairment, obesity, and vision loss. Which of the following syndromes is the MOST likely explanation of their features? A. BardetBiedl syndrome B. MeckelGruber syndrome C. PallisterHall syndrome D. SmithLemliOpitz syndrome

C. PallisterHall syndrome

A 50yearold man with a family history of fragile X syndrome has 120 CGG repeats in the FMR1 gene. He is at risk to develop symptoms that could be mistaken for which of the following? A. Alzheimer disease B. stroke C. Parkinson disease D. schizophrenia

C. Parkinson disease

A 38yearold woman comes for genetic counseling because of advanced maternal age. The counselor asks the patient about a cast on her arm. She states that her husband threw a chair at her in a fit of rage. The genetic counselor explores this further. The patient tells her that her husband has been abusive in the past, and she is afraid for their children. The patient believes the injury was her fault since she provoked her husband's anger. The counselor suggests that the patient speak with a social worker, but the patient declines. Which of the following is the MOST appropriate action by the counselor? A. Ask the patient for permission to speak to the husband about the incident. B. Encourage the patient to seek help about her abusive relationship. C. Report the information to child protective services or the local police department. D. Respect the patient's wishes and keep this information confidential.

C. Report the information to child protective services or the local police department.

Which of the following study designs requires participants to sign an informed consent document? A. a retrospective chart review that compares ethnicity and cancer treatment outcomes after removing patient personal identifiers B. a voluntary anonymous survey posted on a support group website for individuals with celiac disease on their experience with genetic testing C. a prospective randomized trial of asymptomatic BRCA1 mutation positive individuals to evaluate the efficacy of preventive oophorectomy D. a study to determine what percentage of colorectal cancer tumors diagnosed before age 30 demonstrate microsatellite instability using existing pathology specimens donated to a National Colorectal Cancer Registry

C. a prospective randomized trial of asymptomatic BRCA1 mutation positive individuals to evaluate the efficacy of preventive oophorectomy

A 5yearold girl is referred to the genetics clinic for evaluation of dysmorphic features and developmental delay. She has fair skin, microcephaly, a prominent jaw, and a widebased gait. She has had seizures since she was 6 months old, walked at 23 months, and has no speech. Family history is noncontributory. Which of the following evaluations is MOST likely to establish the diagnosis? A. FMR1 testing B. MECP2 gene sequencing C. chromosomal microarray D. urine organic acid screen

C. chromosomal microarray

A 28yearold man with Klinefelter syndrome is referred for genetic counseling. He calls the genetic counselor several times with questions. The man's voice and personality are similar to the counselor's brother. She finds it easy to talk to him and enjoys his questions. She realizes her calls with him are taking longer than they should. Which of the following BEST describes this situation? A. ambivalence B. projection C. countertransference D. transference

C. countertransference

Ultrasonography of a 26yearold woman at 16 weeks gestation shows fetal findings consistent with osteogenesis imperfecta, type II. The woman had a previous fetus affected with the same condition. The woman and her husband are healthy and have no obvious clinical characteristics of osteogenesis imperfecta. Which of the following is the MOST likely explanation for this recurrence? A. autosomal recessive inheritance B. de novo mutation C. germline mosaicism D. incomplete penetrance

C. germline mosaicism

A 40yearold man is referred to the genetics clinic by his internist. He has chronic fatigue, joint pain in his hands and neck, and type 2 diabetes. Complete blood count, thyroid function studies, and lipid profiles are within the normal ranges, but serum ferritin levels are increased. Which of the following is the MOST likely diagnosis? A. acute intermittent porphyria B. Fabry disease C. hemochromatosis D. Wilson disease

C. hemochromatosis

A 43yearold woman seeks genetic counseling because of a recent diagnosis of endometrial cancer. Her family history includes a maternal grandmother with breast cancer at age 56, father with colorectal cancer at age 47, and one paternal aunt with ovarian cancer at age 49. Counseling regarding testing for which of the following syndromes is MOST appropriate? A. familial adenomatous polyposis B. hereditary breast and ovarian cancer C. hereditary nonpolyposis colorectal cancer D. PTEN hamartoma tumor syndrome

C. hereditary nonpolyposis colorectal cancer

A 45yearold man with colon cancer comes for genetic counseling. In conjunction with microsatellite instability testing, which of the following tests done on his colon tumor would be MOST helpful in deciding about testing for germline Lynch syndrome mutations? A. comparative genomic hybridization B. tumor cell karyotype C. immunohistochemical staining D. loss of heterozygosity

C. immunohistochemical staining

A 3yearold girl comes for genetic evaluation because of developmental delay and irregular brownish whorls on her left leg. Her mother reports that the skin discoloration was first noted at about 2 months of age and that tooth eruption was delayed. The MOST likely diagnosis is A. neurofibromatosis. B. linear sebaceous nevus syndrome. C. incontinentia pigmenti syndrome. D. tuberous sclerosis.

C. incontinentia pigmenti syndrome.

A woman is referred for genetic counseling. Her son died at the age of 3 weeks with the following findings: holoprosencephaly, cleft lip and palate, and polydactyly. Her doctor has referred her for genetic counseling to discuss implications for future pregnancies. What additional information would be MOST helpful to determine the recurrence risk? A. complete family history B. quad screen results from the pregnancy C. karyotype results on the child D. child's death certificate

C. karyotype results on the child

A pregnant woman is undecided about pursuing invasive testing. She asks, "If I were your wife, what would you tell me to do?" The counselor replies, "I don't know what I would do, but I do know what concerns I would think about." Which of the following techniques BEST describes this response? A. advice giving B. directive guidance C. nondirective counseling D. nonjudgmental reflection

C. nondirective counseling

All testing has been negative in a 5yearold female with multiple congenital anomalies and intellectual disability. The child's parents are interested in enrolling their daughter in a research study to investigate potential genetic causes. The consent forms are available from the research study's website. The BEST next step to facilitate enrollment of this child into the research study is to A. obtain informed consent using the online form. B. obtain assent from the 5yearold daughter. C. refer the family to the study coordinator. D. draw a blood sample for the research study.

C. refer the family to the study coordinator.

When contracting with a patient at the beginning of a genetic counseling session, which of the following should the counselor address FIRST? A. the patient's educational background to determine how much information to provide B. the charges for testing and if the patient wants the insurance company to be billed C. the plan for the session and if the patient has other concerns to discuss D. the patient's ethnic background to assess the risk for other genetic conditions

C. the plan for the session and if the patient has other concerns to discuss

A woman comes for genetic counseling to discuss the prenatal diagnosis of trisomy 21 by amniocentesis. She says that she feels "very alone" with this diagnosis. Which of the following is the counselor's BEST initial response? A. "Who has been supporting you during the pregnancy?" B. "Have you spoken with a trisomy 21 support group?" C. "What has your partner said about the diagnosis?" D. "How has this situation been isolating for you?"

D. "How has this situation been isolating for you?"

The parents of a child newly diagnosed with complete androgen insensitivity come for genetic counseling. The counselor tells the parents it is common practice to remove the streak gonads. The mother asks, "Do you think that we should agree to this?" Which of the following is the BEST response by the genetic counselor? A. "Genetic counselors can't advise you one way or the other." B. "It doesn't matter what I think; I am not in your shoes." C. "I can arrange for you to talk with people in a similar situation." D. "Surgery is necessary to reduce the chance of cancer."

D. "Surgery is necessary to reduce the chance of cancer."

Which of the following laboratory studies is MOST likely to confirm the diagnosis of SmithLemliOpitz syndrome? A. 15q1113 methylation analysis B. isoelectric focusing of transferrin C. chromosomal microarray D. 7dehydrocholesterol analysis

D. 7dehydrocholesterol analysis

A 26yearold woman comes for genetic counseling for presymptomatic testing for Huntington disease (HD). Her psychiatrist has told the genetic counselor that the woman has an unstable living situation and is showing signs of depression. The woman told the psychiatrist that "she has no one." The woman is very emotional when she arrives at the counselor's office and demands HD testing. Which of the following is the BEST way to proceed with the session? A. Explain being uncomfortable arranging her testing, and refer her to another genetic counselor. B. Discuss with the patient the statements that she made, and proceed with the protocol and testing as requested. C. Proceed with testing because her depression may be an early manifestation of HD. D. Acknowledge the patient's situation, and refer her for psychological services before proceeding.

D. Acknowledge the patient's situation, and refer her for psychological services before proceeding.

A 2yearold child with developmental delay is newly diagnosed as having RubinsteinTaybi syndrome. The mother continues to keep the child's medical appointments but tells the genetic counselor that she does not believe the diagnosis. Which of the following is the BEST strategy for the counselor to pursue? A. Refer the mother to a support group to meet with other families. B. Emphasize the positive aspects of the diagnosis with the mother. C. Review the medical findings to convince the mother of the diagnosis. D. Allow the mother time to come to terms with the diagnosis at her own rate.

D. Allow the mother time to come to terms with the diagnosis at her own rate.

A 6yearold boy is referred for genetic counseling. His medical record shows that he had mild congenital hearing loss, which worsened after he fell and hit his head. He has no dysmorphic features and a negative family history. A head CT scan performed after the fall noted bilateral enlargement of the vestibular aqueducts. Which of the following is the MOST likely cause? A. connexin26 mutations B. branchiootorenal syndrome C. mitochondrial A1555G mutation D. Pendred syndrome

D. Pendred syndrome

A couple returns for genetic counseling to discuss their genetic test results for cystic fibrosis (CF). Their daughter had an abnormal sweat test and CFTR sequencing that identified one known mutation and one variant of unknown significance (VUS). Parental testing revealed that both the mutation and VUS were maternally inherited. Which of the following should the genetic counselor do next? A. Tell the family their daughter is a carrier and no further testing is warranted. B. Tell the family that more research is needed to determine the significance of the VUS. C. Recommend paternal uniparental disomy testing. D. Recommend CFTR deletion/duplication testing.

D. Recommend CFTR deletion/duplication testing.

A genetic counselor is the research coordinator of a large study that collects DNA samples from families. The database includes clinical information, family history, and mutation status. A group of researchers conducting a similar study requests access to the research information; however, no mention of sharing information was included in the consent form. Which of the following actions is needed before releasing the information in the database? A. Recontact and reconsent the population for the new study. B. Deidentify the database information before releasing it. C. No other action is needed before releasing the information. D. Request an IRB waiver of consent to share deidentified data.

D. Request an IRB waiver of consent to share deidentified data.

A 45yearold woman with premenopausal breast cancer comes for genetic counseling. She says that her mother died of "abdominal cancer" at age 65 years. The patient has been estranged from her family since several years before her mother's death and remembers only vague details about her mother's illness. Which of the following is the MOST appropriate next step by the counselor to establish the diagnosis in the mother? A. Have the patient obtain her mother's death certificate. B. Ask the patient to identify a family member who is more familiar with her mother's medical history. C. Note the cancer in her record and continue to facilitate recall of other family cancers. D. Request the deceased woman's medical records from her treating physician because consent is not required when a provider is the requestor.

D. Request the deceased woman's medical records from her treating physician because consent is not required when a provider is the requestor.

A 41yearold pregnant Vietnamese woman at 15 weeks gestation comes for genetic counseling prior to amniocentesis. She speaks very little English and has brought her husband with her to act as an interpreter. The hospital's Vietnamese interpreter is not currently available. Which of the following is the BEST action by the genetic counselor? A. Call the patient's obstetrician for advice on how to proceed. B. Conduct the session with the husband translating. C. Proceed with the amniocentesis with counseling afterwards. D. Reschedule the appointment when a professional interpreter is available.

D. Reschedule the appointment when a professional interpreter is available.

A 40yearold pregnant woman comes for genetic counseling. She tells the genetic counselor that she has been taking paroxetine for an anxiety disorder and is concerned about the effects of this drug on the fetus. Which of the following resources would be BEST to determine the risk to the fetus? A. GeneTests B. OMIM C. POSSUM D. TERIS

D. TERIS

Which of the following conditions warrants patient resource materials written to a lower than average literacy level? A. Stickler syndrome B. MaroteauxLamy syndrome C. Von Hippel Lindau syndrome D. Velocardiofacial syndrome

D. Velocardiofacial syndrome

A 3yearold boy is referred to the genetics clinic for evaluation of his autisticlike behaviors and cognitive impairment. The test with the highest diagnostic yield is A. FMR1 analysis. B. mitochondrial sequencing. C. urine organic acid analysis. D. chromosomal microarray.

D. chromosomal microarray.

A couple comes for genetic counseling because their daughter has congenital adrenal hyperplasia (CAH). Which of the following would be the BEST strategy to minimize the possible effects of CAH in future pregnancies? A. BH4 supplementation B. biotin therapy C. cholesterol supplementation D. dexamethasone therapy

D. dexamethasone therapy

A 33yearold woman who is 20 weeks pregnant is referred for genetic counseling. Fetal ultrasound showed caudal regression. Which of the following conditions is the woman MOST likely to have? A. lupus B. phenylketonuria C. hypothyroidism D. diabetes

D. diabetes

A genetic counselor is supervising a secondyear genetic counseling student in a pediatric clinic. During the appointment, the student leaves out an important piece of information. In a positive cocounseling environment, the MOST appropriate response by the supervisor is to A. provide feedback to the student at the time of the mistake. B. discuss the missed information with the student after the appointment. C. interrupt the student and assume counseling responsibilities. D. interject the information and prompt the student to continue.

D. interject the information and prompt the student to continue.

A 25yearold woman comes for genetic counseling at 12 weeks gestation because her sister recently had a baby girl with a "metabolic condition." She was told that her niece has recurrent vomiting, seizures, and smells like "sweaty feet." The niece was born overseas, medical records cannot be obtained, and the woman is estranged from her sister. The genetic counselor should look for laboratories that offer carrier testing for which of the following conditions? A. maple syrup urine disease B. propionic acidemia C. methylmalonic acidemia D. isovaleric acidemia

D. isovaleric acidemia

Which of the following is the MOST likely mechanism of tumor occurrence in patients who have deleterious mutations in tumor suppressor genes? A. alternative splicing B. errors in DNA mismatch repair C. hypermethylation D. loss of function

D. loss of function

A woman who is 27 weeks pregnant has a fetal ultrasound that is suggestive of esophageal atresia. This anomaly is an example of A. disruption. B. deformation. C. sequence. D. malformation.

D. malformation.

A Caucasian genetic counselor meets with a Hispanic woman who is being evaluated for familial adenomatous polyposis. In an attempt to gain the client's trust and to promote their engagement, the counselor begins the conversation by sharing information about her own family's experience with cancer. This counseling technique is based on A. attending language. B. congruence. C. shared language. D. reciprocity.

D. reciprocity.

A pregnant woman has an ultrasound that identifies a lumbar meningomyelocele in the fetus. Which of the following exposures is MOST closely associated with this birth defect? A. tetracycline B. lithium C. phenytoin D. valproic acid

D. valproic acid

Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome.

Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. FISH testing for 15q11 deletion was negative. The BEST next step in testing would be to draw blood from the affected individual, his mother, and which of the following other individuals? A. I:1 and I:2 B. I:2 and I:4 C. II:2 and III:3 D. I:3 and III:3