Practice Questions 1
genetic counseling student has just seen a couple whose first-trimester screening result showed a 1 in 5 chance for the fetus to have trisomy 18. During the session, the husband made several disparaging comments about his wife and stated, "Of course she wants a CVS, she always worries about everything!" By the end of the session, the student was very angry with the husband. As she discusses the case with her supervisor, she realizes the husband reminded her of her own father. Which is the BEST approach for the supervisor to take with this student? 1. encourage her to engage in self-reflection. 2. help her identify the source of her feelings. 3. discuss with her ways to minimize transference. 4. share with her that this reaction is not unusual. A. 1, 2, and 3 only B. 1, 2, and 4 only C. 1, 3, and 4 only D. 2, 3, and 4 only
B. 1, 2, and 4 only
Which of the following is considered a primary defect occurring by 8 to 10 weeks of gestation? a.Web neck b.Cleft lip c.Contracture d.Club feet
B. Cleft lip
An 18-year-old woman comes to you for genetic counseling because her twin brother died of leukemia at age 6 and her mother passed away shortly after they were born from a sarcoma at the age of 22. Your patient is found to have a p53 mutation. You explain that she is at the highest risk for which type of cancer: a.Sarcoma b.Adrenocortical tumors c.Leukemia d.Breast
d.Breast
Your patient has had a total colectomy as treatment for colon cancer earlier in life. Screening with annual upper endoscopy is especially important if his colon cancer was due to which of the following genetic conditions: a.FAP b.Lynch syndrome c.BRCA1/BRCA2 d.Cowden Syndrome
a. FAP
A young girl presents to the pediatric genetics clinic due to a diagnosis of cystic fibrosis. She has two unaffected brothers. There is no other family history of cystic fibrosis. The carrier risk to the child\'s mother is closest to: a.100% b.66% c.50% d.0%
a.100%
Concerning Duchenne muscular dystrophy (DMD), which of the following is true: a.2/3 of the mothers of an isolated case of DMD are carriers. b.Mutations typically cause a gain-of-function of the encoded protein. c.Carriers have a <1% risk of dilated cardiomyopathy. d.The progression of muscle weakness is distal to proximal.
a.2/3 of the mothers of an isolated case of DMD are carriers.
A brother and sister presented in early infancy with moderate developmental delay and a severe seizure disorder. No other family members are affected. Muscle biopsy in the boy supports the presence of a mitochondrial disorder. The recurrence risk in future siblings is most likely: a.25% b.50% c.Very high (likely ~80%) d.Cannot determine from this information
A. 25%
A 30-year-old woman who had a previous stillbirth comes for prenatal genetic counseling because her serum screening results show a very low estriol with relatively normal levels of AFP, hCG, and inhibin. To help determine the MOST likely diagnosis for this pregnancy, the genetic counselor should inquire about which of the following abnormalities in the stillborn child? A. hypospadias and congenital heart defect B. hydrocephalus and adducted thumbs C. absent radii and cystic kidneys D. short limbs and polydactyly
A. hypospadias and congenital heart defect
Which of the following techniques would be used to detect a previously identified germline APC mutation in an unaffected first-degree relative? A. site-specific sequencing B. full gene sequencing C. heteroduplex analysis D. protein truncation assay
A. site-specific sequencing
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. explain the recurrence risks of CMT B. ask them what they have been told about CMT C. collect a family and medical history D. review the results of his genetic testing
B. ask them what they have been told about CMT
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
B. engage the husband in the decision-making process
You are examining a patient through the mitochondrial clinic. The 4-year boy presents with infantile onset of symptoms, which include myopathy and liver failure. Testing reveals mutations in the gamma polymerase gene. How do you counsel this family regarding inheritance? a.Maternal b.Autosomal recessive c.Sporadic d.X-linked dominant
B.Autosomal recessive
The co-existence of 2 or more mtDNA types in the same cell, tissue and organism is known as: a.Homoplasmy b.Heteroplasmy c.Diversity d.Mutation
B.Heteroplasmy
A boy with an unknown mitochondrial disease and a negative family history is how likely to have an affected child with the same condition: a.Essentially never (unless in a consanguineous union) b.Quite unlikely, but possible in the rare case of autosomal dominant inheritance c.Estimated 25% d.0-100% - unable to determine
B.Quite unlikely, but possible in the rare case of autosomal dominant inheritance
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. "My sister is not at increased risk for breast cancer."
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. explain that she does not meet diagnostic criteria and recommend an affected relative have DNA testing
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
C. osteosarcoma
In mitochondrial disease, exercise can: a.Precipitate rhabdomyolysis (muscle breakdown) b.Increase strength and endurance c.Both; moderate and careful training are key d.None of the above
C.Both; moderate and careful training are key
Migraine and multiple strokes or stroke-like episodes is most consistent with: a.Kearns-Sayre syndrome b.Leigh disease c.MELAS d.MERRF
C.MELAS
A 3-year old boy presents to the pediatric genetic clinic with the following history: short stature, speech and language delays, and pulmonic stenosis. The geneticist notes the following physical features: triangular face, low-set posteriorly rotated ear, blue-green irides, and web neck. Which syndrome do you suspect? a.Turner b.Williams c.Noonan d.Down syndrome
C.Noonan
A trait has a population frequency of 1 in 40,000. Assuming the most likely mode of inheritance as shown in the pedigree (3 generations affected, all males), what is the probability that the proband's daughter has inherited the familial mutation? A. 0 B. 1/100 C. 1/200 D. 1/2
D. 1/2
An association represents: a.Non-random group of non-specific anomalies for which no etiology can be determined and no core anomaly occurs with 100% frequency b.An exclusion diagnosis c.A disorder where all the core defects are primary defects (anomalies) d.All of the above
D. All of the above
Mitochondrial disease is frequently: a.Progressive b.Intermittent c.Static d.All of the above
D. All of the above
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. choroid plexus cyst
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
D. request a copy of the nephew's karyotype
A child is suspected of having a mitochondrial disease based upon clinical, laboratory and pedigree-based information. "Standard mtDNA analysis" was negative. Which of the following statements is most accurate: a.The patient does not have a mitochondrial disorder. b.The patient probably has a nuclear-encoded mitochondrial disorder (X-linked or autosomal dominant). c.Standard mtDNA testing is very insensitive, and mtDNA disease is present. d.Could be any of the above; careful evaluation and a very detailed pedigree are indicated.
D.Could be any of the above; careful evaluation and a very detailed pedigree are indicated.
The "bottleneck" phenomenon results in: a.The absence of clinical disease until mutant mtDNA levels reach a certain level. b.Sporadic disease in the case of a large mtDNA deletion. c.Varying proportions of mutant heteroplasmy among tissues in an affected individual. d.Often drastically varying proportions of mutant heteroplasmy among individuals in a family segregating a mtDNA mutation
D.Often drastically varying proportions of mutant heteroplasmy among individuals in a family segregating a mtDNA mutation
Genetic testing for mutations in the genes causing HNPCC is best offered first to which family member? a.A person affected with an early onset colon cancer b.An unaffected individual at risk of inheriting HNPCC, since determining his/her status as a gene carrier (or not) first is most important since there are screening decisions to make c.It doesn't matter, whoever has insurance to cover the testing should go first d.It doesn't matter, but never advise patients to use their insurance since a positive test could risk coverage
a.A person affected with an early onset colon cancer
Multiculturalism encompasses: a.An understanding of the values and attitudes of others b.Sharing of values c.Agreeing to practices and rituals which we do not practice d.Intellectually becoming aware of our own cultural heritage
a.An understanding of the values and attitudes of others
A consultand is a 40-year-old woman with: a sister with breast cancer at 44 years; a sister with follicular carcinoma of the thyroid removed at age 51; a brother who has a 40 year old daughter with ovarian cancer; a brother who was adopted into the family and who died with autopsy-proved adrenal cortical neoplasm at age 4 years; a mother who died at age 51 years of surgically proved ovarian adenocarcinoma; a maternal aunt who died at age 55 years from bone metastases from a breast cancer; a maternal uncle who just got sigmoid colon adenocarcinoma at age 80. The single gene most likely mutant in this family is: a.BRCA1/2 b.TP53 c.RET d.ATM
a.BRCA1/2
A three year old girl presents to the pediatric clinic with a history of an overgrowth disorder and post-surgically repaired omphalocele. The family has two older sons (15 yrs and 18 yrs) who are in good health. There are no other affected family members. The mother informs you that they had trouble getting pregnant with their daughter and conceived this pregnancy with the help of IVF. Genetic testing for a particular syndrome that fits the presentation in this case is ordered and returns positive. Which of the following conditions is the daughter most likely to have? a.Beckwith Wiedemann Syndrome b.Proteus Syndrome c.Sotos Syndrome d.Weaver Syndrome
a.Beckwith Wiedemann Syndrome
You are meeting with a family who has a daughter with primary respiratory alkalosis. Which one of the following disorders is MOST likely to be associated with this finding? a.Carbamyl phosphate synthetase (CPS) deficiency b.Tyrosinemia c.Pyruvate dehydrogenase complex deficiency d.Methylmalonic academia
a.Carbamyl phosphate synthetase (CPS) deficiency
A couple at risk for having a child with Down syndrome is being seen in your genetics clinic. Which of the following statements is true? a.Down syndrome is the most common autosomal chromosome disorder in live births b.More than one-half of children with Down syndrome are born to mothers above the age of 35 c.Down synrome risk decreases with advancing maternal age d.Second trimester ultrasound can diagnose Down syndrome with high accuracy.
a.Down syndrome is the most common autosomal chromosome disorder in live births
A young patient is seen in the metabolics clinic based on a history of hypoglycemia, which is commonly associated with the presence of abundant ketones in the urine. Which one of the following causes of hypoketotic hypoglycemia (low blood glucose with low urine ketones) is the MOST common? a.Fatty acid oxidation defects b.Disorders of carnitine transport c.Hyperinsulinism d.Hydroxymethylglutaryl (HMG) CoA lyase deficiency
a.Fatty acid oxidation defects
55:A couple is deciding whether or not to test their 12-year-old for the APC mutation that was identified in the child's father. You explain that the risks for cancer associated with this mutation are present: a.From infancy on b.From about age 11-12 on c.From about age 20-25 on d.From about age 30 on
a.From infancy on
Screening for Wilms tumor should be initiated for a 2-month-old infant with each condition, except one: a.Hereditary aniridia b.Hemihypertrophy c.WAGR syndrome d.Wiedemann-Beckwith syndrome
a.Hereditary aniridia
Which of the following characteristics is not necessary to define a complex trait? a.High prevalence b.Incomplete penetrance c.Locus heterogeneity d.Phenocopy
a.High prevalence
Which of the following tests is recommended by the American College of OB/Gyn for all pregnant patients who present for care in the first trimester? a.Integrated first and second trimester screening b.First trimester screening only c.Second trimester screening only d.Nuchal translucency measurements
a.Integrated first and second trimester screening
A patient is seen in the metabolic genetics clinic for a diagnosis of tyrosinemia, type 1. As you speak with the family regarding the patient\'s symptoms, which one of the following symptoms would you not include in your intake of past medical history? a.Intellectual disability b.Cirrhosis of the liver c.Hypertensive crisis d.Rickets
a.Intellectual disability
A man with a high MSI colon cancer diagnosed at age 30 has a brother diagnosed with colon cancer at age 32, who also has a high MSI tumor. Testing for mutations in the MSH2 gene failed to reveal a mutation. The most likely place to find a mutation now is in which gene? a.MLH1 b.APC c.MSH6 d.COL2
a.MLH1
When contracting with a patient concerning laboratory test results, one should: a.Make a plan for reporting test results b.Provide a toll free number for contacting the laboratory directly c.Suggest the patient complete a medical record form to request the laboratory report d.Demonstrate how to navigate the laboratory's website
a.Make a plan for reporting test results
A Caucasian couple is being seen for prenatal genetic counseling. The MOST APPROPRIATE risk for a neural tube defect for this couple is a.l-2 per 1000 livebirths b.5-6 per 1000 livebirths c.l-2 per 10,000 livebirths d.1-2 per 100,000 livebirths
a.l-2 per 1000 livebirths
Assume of 100,000 consecutive newborns all were examined for signs of an autosomal dominant disorder with 100% penetrance. Of eight affected infants, five were born to unaffected parents. The new mutation rate is: a.1 x 10 -5 b.2.5 x 10 -5 c.4 x 10 -5 d.5 x 10 -5
b.2.5 x 10 -5
The oldest brother of a girl with cystic fibrosis comes in to see you, as he was engaged to be married when his younger sister was diagnosed. His fiancée is worried about their chance of having a child with cystic fibrosis. You tell him that his risk of being a carrier is about: a.100% b.66% c.50% d.0%
b.66%
A products of conception sample (POC) is karyotyped in your Cytogenetics Lab with this result: 46,XX,der(3)t(3;7)(p25;q32). The parents were previously studied and the father was found to have the following karyotype: 46,XY,t(3;7)(p25;q32). Which word or phrase below best describes the meiotic origin of the POC karyotype? a.Alternate segregation b.Adjacent segregation c.3:1 segregation d.Nondisjunction
b.Adjacent segregation
A woman is being seen in the prenatal genetics clinic following a routine screening ultrasound which identified a birth defect. Which of the following conditions is most likely to be diagnosed by a routine screening ultrasound? a.Cleft palate b.Anencephaly c.Down syndrome d.Cleft lip
b.Anencephaly
A mother presents to the genetics clinic with her 14-month son for concerns of developmental delays and hypotonia. The family history reveals the mother has a history of cataracts and heart arrhythmia and her father also has cataracts and baldness. The most likely diagnosis is a.Spinal muscular atrophy b.Congenital myotonic dystrophy c.Limb-girdle muscular dystrophy d.Bethlem myopathy
b.Congenital myotonic dystrophy
Huntington disease is caused by an: a.Expanded trinucleotide repeat in the promoter region of the gene. b.Expanded trinucleotide repeat in the protein-coding region of the gene. c.Expanded trinucleotide repeat in an intron of the gene. d.Expanded trinucleotide repeat in the 3' untranslated region of the gene
b.Expanded trinucleotide repeat in the protein-coding region of the gene.
Lisch Nodules are most helpful in diagnosing a.Marfan syndrome b.Neurofibromatosis type 1 c.Tuberous sclerosis d.Sturge Weber
b.Neurofibromatosis type 1
A 15-year-old male is being seen for muscle weakness. Amongst the differential diagnoses is Becker muscular dystrophy (BMD). Which of the following are consistent with this diagnosis? a.Deletion mutations in the dystroglycan gene b.Proximal muscle weakness c.Elevated serum transaminase levels d.Congenital joint contractures
b.Proximal muscle weakness
Which of the following is not considered a prerequisite for implementation of a neonatal screening program? a.The disorder should be an important health problem b.The disorder should be symptomatic in the neonatal period c.Facilities for follow-up should be available d.The screening test should have few false-positives and false-negatives.
b.The disorder should be symptomatic in the neonatal period
The most common autosomal trisomy in human conceptions is a.Trisomy 8 b.Trisomy 16 c.Trisomy 18 d.Trisomy 21
b.Trisomy 16
The marker D6S62 has four alleles with the frequencies of 0.25, 0.25, 0.25, and 0.25. What is the marker heterozygosity? a.1 b.0.94 c.0.75 d.0.25
c.0.75
The percentage of breast cancer caused by germline mutations in a gene inherited in a Mendelian fashion is: a.35-50% b.15-35% c.5-10% d.1-2%
c.5-10%
A 3-year old boy presents to the pediatric genetic clinic with the following history: short stature, speech and language delays, and pulmonic stenosis. The geneticist notes the following physical features: triangular face, low-set posteriorly rotated ear, blue-green irides, and web neck. During the session the family informs you that their daughter who is 5 years old has similar features to their son but that their 18-month twins do not seem to have the same delays or physical features. What recurrence rate should you give this family? a.Less than 25% b.25% c.50% d.Unable to determine
c.50%
Believe it or not, your current client reminds you of your mother. Every time you meet in session with this client you start thinking about all of those unresolved issues you have with Mom and you catch yourself watching the clock on the wall behind the client, wishing the session would end. In fact, you are starting to dislike this client and are considering terminating and referring her to another counselor. Chances are you are experiencing: a.Guilt versus initiative b.Parental interjections c.Countertransference d.Transference
c.Countertransference
What is the most likely syndromic diagnosis for a 42-year-old woman with bilateral adenocarcinoma of the breast, multiple thyroid adenomas, hyperkeratotic palmar papules, and gingival keratosis? a.Nevoid basal cell carcinoma syndrome b.Multiple mucosal neuroma syndrome c.Cowden multiple hamartoma syndrome d.Muir-Torre syndrome
c.Cowden multiple hamartoma syndrome
A female patient you are scheduled to see speaks only Mandarin. In selecting an interpreter for this session, which of the following is not a factor to consider? a.Choose an individual trained in medical terminology b.Talk with the interpreter beforehand to establish an approach c.Expect an exact word for word translation d.Ask the patient through the interpreter what the patient's expectations, fears, and concerns are
c.Expect an exact word for word translation
A 40 year old Caucasian woman has a paternal aunt diagnosed with breast cancer at 43, and another paternal aunt diagnosed with breast cancer at age 29. Her first period was at age 12, she had her first child at age 28 and has had no breast biopsies. She has no maternal history of breast cancer, but her maternal aunt was diagnosed with ovarian cancer at age 56. How would you expect her Gail and Claus models to compare? a.The risks should be similar b.Her Gail model risk would be higher c.Her Claus model risk would be higher d.Neither model predicts her risk would be higher than the average woman's risk due to the paternal nature of her family history
c.Her Claus model risk would be higher
A couple inquires about the usefulness of testing fetal DNA isolated from maternal circulation. Your BEST response is that this test is: a.Most reliable when using fetal lymphocytes b.Associated with very low false negative rate for microdeletion syndromes. c.Highly accurate with a 99% detection rate for trisomy 21 d.An excellent screening test for all chromosome abnormalities
c.Highly accurate with a 99% detection rate for trisomy 21
A couple moves to a new community with their young son. They choose a pediatrician and an appointment is made. As soon as the boy enters the office, the physician notes that he has coarse facial features. A referral is made to an ophthalmologist who notes no eye abnormalities. Which one of the following diagnoses is this boy MOST likely to have? a.Glucose-6-phosphate dehydrogenase deficiency b.Phenylketonuria c.Hunter syndrome d.Zellweger syndrome
c.Hunter syndrome
Which of the following is true about cell-free DNA testing? a.It will identify 100% of cases of trisomy 13, 18, and 21. b.It has a comparable false-positive rate to biochemical screening. c.It has a higher positive predictive value for trisomy 21 than biochemical screening. d.It has a higher positive predictive value in lower risk patients than in higher risk patients.
c.It has a higher positive predictive value for trisomy 21 than biochemical screening.
A woman is being seen for pre-conception genetic counseling and expresses interest in pre-implantation diagnosis because of a history of a genetic condition. For which of the following conditions would you tell her that pre-implantation diagnosis is NOT possible? a.Achondroplasia b.Fanconi anemia c.Neural tube defects d.Cystic fibrosis
c.Neural tube defects
A three year old girl presents to the pediatric clinic with a history of an overgrowth disorder and post-surgically repaired omphalocele. The family has two older sons (15 yrs and 18 yrs) who are in good health. There are no other affected family members. The mother informs you that they had trouble getting pregnant with their daughter and conceived this pregnancy with the help of IVF. The family informs you that they would really like to have one more child but are concerned about the recurrence. Based on the scenario the most likely inheritance for this syndrome is: a.Autosomal recessive b.Autosomal dominant c.Sporadic d.X-linked
c.Sporadic
You are a pediatrician, and a newborn is on a first visit with a parent-related note of "failing the newborn hearing screening test" at a hospital nursery. You appropriately think the following: a.The parents are likely deaf as well. b.That the family is from North Africa, due to the prevalence of DFNB1 mutations in this population. c.The child should have a diagnostic evaluation with an audiologist. d.Whole exome screening is the most appropriate next test to offer.
c.The child should have a diagnostic evaluation with an audiologist.
When a significant association between disease and a marker allele was found in a case-control study, the following statement was correct. a.The marker causes the disease b.The marker allele causes the disease c.The marker allele is associated with the disease status d.The marker is not in linkage disequilibrium with the disease
c.The marker allele is associated with the disease status
The coefficient of inbreeding (F) for a mating of first cousins once removed is: a.l/8 b.l/16 c.l/32 d.l/64
c.l/32
Given a gene frequency of 1 in 20 for an autosomal recessive disorder, the probability that the third child born to a couple will be affected if the first two are normal is closest to: a.1 in 100 b.1 in 200 c.1 in 400 d.1 in 800
d.1 in 800
A woman has a maternal grandfather who was affected with Hemophilia (Factor VIII deficiency). The woman already has three healthy sons. What is the probability that her next child will be affected with Hemophilia? a.1/4 b.1/9 c.1/18 d.1/36
d.1/36
A man has an autosomal dominant condition which is 80% penetrant and easily diagnosed at birth. His son is unaffected. What is the likelihood that his son could have inherited the mutant gene although he is unaffected? a.1/2 b.1/4 c.1/5 d.1/6
d.1/6
A 75-year-old woman with a recent diagnosis of breast cancer reports that she started her menstrual period at the age of 11 and had her first and only child at age 30. Which of the following was her most significant risk factor for developing breast cancer? a.Age at menarche b.Age at first birth c.Number of livebirths d.Age
d.Age
29:You work in a prenatal screening laboratory and receive a result with an elevated maternal serum AFP. Possible causes for this result include a.Fetal death b.Anencephaly c.Mis-dating d.All of the above
d.All of the above
An increased nuchal translucency was identified on your patient\'s ultrasound. In speaking with her and her husband about the results, what condition(s) should be addressed based on this result? a.Congenital heart defect b.Down syndrome c.Noonan syndrome d.All of the above
d.All of the above
In regards to medical record documentation, it is not permissible to: a.Change dates so the chronological order of information is maintained b.Justify mistakes c.Alter another provider's documentation d.All of the above
d.All of the above
A young man is being evaluated in the metabolic genetics clinic with a diagnosis of homocystinuria. Which of the following features would NOT be included in your interview of past medical history or current problems? a.Pectus excavatum b.Arachnodactyly c.Dislocated lenses d.Aortic rupture
d.Aortic rupture
An 8 year old with leukemia has an unaffected 6 year old sister. Their parents request that the 6 year old have genetic testing for a possible cancer gene (a dignosis of Li-Fraumeni syndrome has been confirmed in a close relative). The major ethical concern about such testing would be: a.Nonmaleficence b.Beneficence c.Confidentiality d.Autonomy
d.Autonomy
A products of conception sample (POC) is karyotyped in your Cytogenetics Lab with this result: 46,XX,der(3)t(3;7)(p25;q32). The parents were previously studied and the father was found to have the following karyotype: 46,XY,t(3;7)(p25;q32). What is the chance of having another pregnancy with an unbalanced chromosome complement? a.25% b.50% c.100% d.Can't be determined without more information
d.Can't be determined without more information
You have a client who loves to hear herself talk. You have even seen her talking to herself in the waiting room when there is no one around. If you want to shut off the verbose behavior of your client, you might consider using: a.Yawns b.Silence c.Open-ended questions d.Closed-ended questions
d.Closed-ended questions
You are called to the NICU to meet with the parents of a baby who is being evaluated for ornithine transcarbamylase (OTC) deficiency. Which one of the following clinical presentations is NOT described with OTC? a.Reye syndrome-like illness b.Coma during a flu-like illness c.Neonatal coma d.Lethargy following the ingestion of foods containing fructose or sucrose
d.Lethargy following the ingestion of foods containing fructose or sucrose
You are meeting with a couple who is considering amniocentesis to rule out Down syndrome based on an increased risk found on first trimester screening. You inform them that the MOST SIGNIFICANT risk of amniocentesis is: a.Fetal injury b.Maternal infection c.Dry tap d.Miscarriage
d.Miscarriage
You are meeting with a patient who has late-onset Tay-Sachs disease. Which one of the following clinical symptoms is MOST likely to be listed in his current concerns or recent medical history? a.Cherry red spot b.Epilepsy c.Liver enlargement d.Psychosis
d.Psychosis
An unaffected woman with a BRCA1 mutation questions you about why her lifetime risk for breast cancer has such a wide range of approximately 55-85%. You explain that early studies found an 85% chance of female breast cancer associated with BRCAl. Which of the following is the best explanation for this: a.The initial studies failed to account for individuals in the families with mutations who may have died without ever developing cancer b.The initial studies were found to be incorrect, in fact risk is much lower for all individuals with BRCAl mutations c.The initial studies contained families with both breast and ovarian cancer, and not just site specific breast cancer families d.The initial studies were enriched for highly penetrant families collected for linkage purposes
d.The initial studies were enriched for highly penetrant families collected for linkage purposes
Supravalvular aortic stenosis is most commonly found in a.Noonan syndrome b.Marfan syndrome c.Homocystinuria d.Williams syndrome
d.Williams syndrome
