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116 Cards in this Set
- Front
- Back
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Coping Style
The genetic counselor is meeting with a mother of a child with multiple congenital anomalies. After her initial grief, she now states the child is a gift which will help her to become a stronger person and allow her the opportunity to provide the best care and environment for a child severe medical problems a. Positive reappraisal b. Seek social support c. Accept responsibility d. Distancing |
positive reappraisal
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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
Escape-avoidance Plan Distancing Positive reappraisal |
Escape-Avoidance
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Please select the coping style which is best represented by the counselee
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! Confrontive Self-controlling Accept responsibility Distancing |
Confrontive
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A mother of a child with achondroplasia attends an initial evaluation in the pediatric medical genetics clinic. The genetic counselor initiates a discussion of recurrence risks. The mother immediately becomes withdrawn and checks her watch. The genetic counselor recognizes the mother’s reaction and decides to explore this further. What emotional response did the genetic counselor recognize
Shame Guilt Anger Denial |
Shame
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A new patient to the adult medical genetics clinic reports that he has recently started to exhibit symptoms of a neuromuscular disorder. An evaluation is performed and genetic testing is ordered. At a follow-up appointment, the genetic counselor discloses the confirmatory test result. The patient tearfully asks the genetic counselor, “Why is this happening to me?” Which is the best response from the genetic counselor
A. I would be happy to review the genetic aspects of this condition but first please tell me more about what you are feeling right now? B. You are experiencing the symptoms of a late-onset neuromuscular condition C.There is nothing you did to cause this D. We can address your question at some point but first let’s finish reviewing the inheritance of the condition |
A
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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. Refer the patient to his PCP or mental health services b. Do nothing. This is a normal response c. Refer him to an internet site with information about Angelman syndrome d. Shift attention to the mother to determine how she is coping |
A
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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
Guilt Denial Shame Despair |
guilt
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After disclosure of a positive result for BRCA1, 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.You sound angry. Can you tell me more B.Your daughter is making an unwise decision and should reconsider given her 50% risk to have inherited the mutation. C.Allow for some silence in order to give the patient an opportunity to calm down D. I think you may be angry with your daughter over her decision. Can I help to facilitate a discussion between the two of you? |
A
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You are meeting with a woman for genetic counseling due to a history of multiple miscarriages. When planning your approach for the case, which is the MOST effective and direct way to understand how your client is dealing with her multiple losses
A. Ask your client to tell you the “story” of what brings her in for genetic counseling B. Assume that the client experienced grief for several weeks after each loss, but has returned to her pre-crisis level of functioning. C. Review the available medical records, looking for documentation of depression D. Take the family and medical history to develop a rapport with your client. |
A
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Which of the following is NOT an appropriate strategy for crisis intervention
A. 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 B. Ask your patient how they have coped with difficult situations in the past and explore whether the same strategies may be helpful. C. During your discussion, assess for any suicidal or homicidal thoughts or plans. D. 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. |
D
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Monozygous twin females have the greatest likelihood for an extremely discordant phenotype for
cystic fibrosis polyposis of the colon Hurler syndrome Duchenne dystrophy |
Duchenne
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Choose the correct order of reproductive fitness from greatest to least for Huntington disease (HD), tuberous sclerosis (TS), neurofibromatosis type 1 (NF), and osteogenesis imperfecta type II (OI).
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HS>NF>TS>OI
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A newborn infant has extreme hypotelorism, microcephaly, midline cleft, poor temperature regulation, seizures, and no anomalies below the neck. The most likely diagnosis is
trisomy 13 trisomy 18 holoprosencephaly meckel-gruber syndrome |
holoprosencephaly
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The onset of Huntington disease at the age of 8 years, presenting with rigidity, is indicative of
maternal inheritance of the CAG repeat expansion paternal inheritance of the CAG repeat expansion maternal uniparental disomy of the CAG repeat expansion paternal uniparental disomy of the CAG repeat expansion |
Paternal inheritance
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You are called to examine a newborn with microcephaly, hypotelorism, microphthalmia, cutis aplasia of the scalp, and postaxial polydactyly. The genetic mechanism most likely responsible for this condition is
triplet repeat expansion single base pair mutation maternal non-disjunction abnormal methylation |
Maternal non-disjunction
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The level of maternal serum AFP is affected by all of the following factors EXCEPT
maternal weight maternal race maternal insulin dependent diabetes maternal age |
Age
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Which of the following is true regarding triploidy?
A. different phenotypes present for triploids with extra paternal vs. maternal material. B most result from a complete failure of meiosis I in males (diploid sperm) C. associated with advanced maternal age D. triploid/tetraploid mosaicism is a common finding |
A
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Match the following situation with one of the following karyotypes: Will usually die in utero
a. 46,XY,der(13;14)(q10;q10)+14 b.45,XX,der(14;21)(q10;q10) c. 45,XY,der(21;21)(q10;q10) d.45,XY,der(13;14)(q10;q10) |
A
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Match the following situation with one of the following karyotypes Has a greater than 25% risk of producing a chromosomally unbalanced liveborn offspring
a. 46,XY,der(13;14)(q10;q10)+14 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
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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 male relative of a male patient a female relative of a male patient a male relative of a female patient a female relative of a female patient |
female relative of male patient
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Which one of the following statements concerning the maternal phenylketonuria (PKU) syndrome is FALSE? NOTE: The majority of offspring of mothers with untreated classic PKU have microcephaly and mental retardation
A. affected children may have low birth weight b. he syndrome results from untreated PKU in mother during pregnancy c. is principally in fetuses who also have PKU d. affected children may have severe heart defects |
c
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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 presymtomatic 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
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Which of the following statements about Turner Syndrome is false
a. Most conceptuses with Turner syndrome result in live born infants with an increased risk for kidney and heart disease b. Some women with Turner syndrome have given birth following in vitro fertilization using donor eggs c. The risk for having a child with Turner syndrome does not increase with maternal age d. If a couple has had one child with 45,X Turners Syndrome, their risk is not increased for the same in future pregnancies |
a
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Which of the following is NOT true about Down Syndrome
a. Most children with Down Syndrome born to women less than age 35 b. Down Syndrome is the most common autosomal trisomy in humans c. Nondisjuction in humans occurs most commonly with the 21st chromosome d. Children with Down Syndrome typically have 47 chromosomes |
c
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Which 2 of the following are examples 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 develops colon cancer in his 40’s then stomach cancer in his 70’s and is found to have a hereditary nonpolyposis colorectal cancer (HNPCC) MSH2 gene deletion. His older brother died at age 80 of heart disease but never had cancer. His older brother’s 40 year old son tests positive for the deletion. 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 & B
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You are counseling Ms. Garcia about possible testing for a family-specific BRCA1 mutation. Pick the technique illustrated.
I have had many people tell me that they feel a sense of guilt about the amount of time they could spend with their loved one with cancer. a. Anticipatory guidance b. Confrontation c. Empathy d. Normalization |
D
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You are counseling Ms. Garcia about possible testing for a family-specific BRCA1 mutation. Pick the technique illustrated.
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 Anticipatory guidance Empathy Immediacy Normalization |
anticipatory guidence
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A genetic counselor is working with a couple and the husband is verbally abusive to his wife, making several unnecessarily critical and demeaning statements. The counselor finds herself getting angry and realizes that she is thinking about her own father, who always belittled her efforts to get a degree in science, yet encouraged her brothers to become professionals. This is an example of:
a. Boundary issues b. Confrontation c. Countertransference d. Identification e. Self disclosure f. Transference |
c
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All of the following regarding Turner syndrome is true EXCEPT
a. Most cases result from maternal nondisjuction b. A maternal age effect is not observed c. Most conceptuses are miscarried d. Congenital lymphedema is a common finding |
a
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Haploinsufficiency best explains which of the following conditions
Beta thalassemia Sickle cell anemia Familial hypercholesterolemia Testicular feminization |
Familial Hypercholesteremia
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Which one of the following statements concerning the maternal phenylketonuria (PKU) syndrome is FALSE? NOTE: The majority of offspring of mothers with untreated classic PKU have microcephaly and mental retardation
A. affected children may have low birth weight b. he syndrome results from untreated PKU in mother during pregnancy c. is principally in fetuses who also have PKU d. affected children may have severe heart defects |
c
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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 presymtomatic 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
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Which of the following statements about Turner Syndrome is false
a. Most conceptuses with Turner syndrome result in live born infants with an increased risk for kidney and heart disease b. Some women with Turner syndrome have given birth following in vitro fertilization using donor eggs c. The risk for having a child with Turner syndrome does not increase with maternal age d. If a couple has had one child with 45,X Turners Syndrome, their risk is not increased for the same in future pregnancies |
a
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Which of the following is NOT true about Down Syndrome
a. Most children with Down Syndrome born to women less than age 35 b. Down Syndrome is the most common autosomal trisomy in humans c. Nondisjuction in humans occurs most commonly with the 21st chromosome d. Children with Down Syndrome typically have 47 chromosomes |
c
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Which 2 of the following are examples 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 develops colon cancer in his 40’s then stomach cancer in his 70’s and is found to have a hereditary nonpolyposis colorectal cancer (HNPCC) MSH2 gene deletion. His older brother died at age 80 of heart disease but never had cancer. His older brother’s 40 year old son tests positive for the deletion. 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 & B
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You are counseling Ms. Garcia about possible testing for a family-specific BRCA1 mutation. Pick the technique illustrated.
I have had many people tell me that they feel a sense of guilt about the amount of time they could spend with their loved one with cancer. a. Anticipatory guidance b. Confrontation c. Empathy d. Normalization |
D
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You are counseling Ms. Garcia about possible testing for a family-specific BRCA1 mutation. Pick the technique illustrated.
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 Anticipatory guidance Empathy Immediacy Normalization |
anticipatory guidence
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A genetic counselor is working with a couple and the husband is verbally abusive to his wife, making several unnecessarily critical and demeaning statements. The counselor finds herself getting angry and realizes that she is thinking about her own father, who always belittled her efforts to get a degree in science, yet encouraged her brothers to become professionals. This is an example of:
a. Boundary issues b. Confrontation c. Countertransference d. Identification e. Self disclosure f. Transference |
c
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All of the following regarding Turner syndrome is true EXCEPT
a. Most cases result from maternal nondisjuction b. A maternal age effect is not observed c. Most conceptuses are miscarried d. Congenital lymphedema is a common finding |
a
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Haploinsufficiency best explains which of the following conditions
Beta thalassemia Sickle cell anemia Familial hypercholesterolemia Testicular feminization |
Familial Hypercholesteremia
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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 |
a
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Which of the following malformation disorders can be confused clinically with the VATER association?
a. Fanconi anemia b. Townes-Brocks c. Infant of diabetic embryopathy d. Feingold syndrome e. All of the above |
e
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CHARGE syndrome typically consists of the following features (CHD7 gene at 8q12.1)
a. coloboma (iris and retina) b. hearing defects c. choanal atresia d. retarded growth/MR e. genital defects f. All of the above |
f
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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. just a plasma phenylalanine level d. plasma phenylalanine and tyrosine levels e. ornithine transcarbamylase gene sequence |
b
In OTC deficiency, an X-linked disorder, a deficiency of the enzyme ornithine transcarbamylase affects ammonium metabolism and leads to high level excretion of orotic acid in the urine. Affected males are usually delivered after a full-term gestation and appear normal at birth. They become symptomatic after they start to ingest protein, resulting in the clinical features outlined in the questio |
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16% of individuals are homozygous for the smaller allele at a particular RFLP with two alleles. What is the allele frequency of the larger allele?
a. 0.2 b. 0.4 c. 0.6 d. 0.8 e. 0.9 |
c
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A pregnancy is terminated at 21 5/7 weeks' gestation due to multiple congenital anomalies. The fetus was delivered stillborn by spontaneous vaginal delivery. Postmortem examination showed a male fetus weighing 550 g. Structural anomalies included coarse faces with right-sided cleft lip and palate, abnormal right nares, protuberant tongue, and a hypoplastic right fifth digit. A large, left-sided diaphragmatic defect was identified with herniation of the stomach, small intestine, and spleen into the left pleural cavity. A probe could be passed through the diaphragmatic hernia; with the spleen in the left pleural cavity. The right pleural cavity contained the right lung and the heart. Both lungs were hypoplastic. The kidneys were symmetrically enlarged. The frontal bone was angular and prominent. The olfactory bulbs were absent, and the corpus callosum was hypoplastic with an absent anterior portion. Cytogenetic analysis showed a 46,XY karyotype. The most likely diagnosis is
Down Syndrome Pallister-Killian syndrome Fryns Syndrome Holt oram syndrome None of the above |
Fryns Syndrome
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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 e. None of the above |
Autonomy
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A couple in their 30's who have two healthy children now have a pregnancy that results in the birth of a stillborn girl with multiple congenital anomalies. Which of the following would be least appropriate to talk to the couple about shortly after their daughter's birth?
a. Further evaluation of the infant (including physical examination, autopsy, and genetic testing) to determine the etiology of the infant's problems b. Recommendation for the mother to have an immediate tubal ligation (sterilization procedure) during this hospitalization to avoid a recurrence of the same problem, especially given they already have two healthy children c. Available genetic counseling and social services d. Opportunities to see, spend time with, and hold their stillborn infant e. Options regarding funeral, memorial, and/or burial services |
B
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A 26-year-old woman of Norwegian descent seeks genetic counseling. Her brother died at age eight of documented cystic fibrosis. 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. 1/6 c. 1/5 d. 1/25 e. < 1% |
1/6 Apply Bayes Theorem to this problem.
P carrier P not prior 2/3 1/3 conditional 0.1 1 joint .066 1/3 probability that she is a carrier and tested negative . 066 / (.066 + .33) = 1/6 |
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An association as a diagnostic morphologic concept signifies
a. Non-random occurrence of multiple anomalies for which no consistent etiology is established b. Core features, usually 6-8, are all anomalies c. Core features rarely all present in individual patient d. Infrequent clinical overlap with known syndromes or other associations e. All the above |
e
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When chromatids divide along the wrong plane, structures with identical arms called ____ are formed
a. ring chromosomes b. translocations c. isochromosomes d. satellites e. kinetochore |
c
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A liver transplant may be effective in treating all of the following disorders except
a. severe familial hypercholesterolemia b. a-1 antitrypsin deficiency c. ornithine transcarbamylase (OTC) deficiency d. glucose-6-phosphate dehydrogenase (G6PD) deficiency e. None of the above |
d
G6PD deficiency results in hemolytic anemia secondary to a decreased stability of G6PD protein and inability to synthesize mature RBCs (under conditions of oxidative stress). A liver transplant won't be particularly useful for these individuals |
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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. Balanced polymorphism d. The influence of drugs that cause hemolytic anemia e. Founder effect |
c
The high frequency of G6PD mutations in areas in which malaria is endemic is an example of a balanced polymorphism. The mutation is maintained in the population at this high frequency because of the protective advantage of heterozygosity |
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A 27-year-old woman presents with stage II (breast and lymph node involvement) right breast cancer. Her family history is markedly positive for other tumors. One of her sisters developed an osteogenic sarcoma at age 17, her brother was diagnosed with acute leukemia at age 5, her mother died of breast cancer, and she has two uncles with soft-tissue sarcomas, both developing this disease when in their thirties. This patient's peripheral blood lymphocytes would be most likely to reveal which of the following abnormalities?
a. Retinoblastoma gene mutation b. p53 gene mutation c. Translocation between chromosomes 9 and 22 d. Translocation between chromosomes 8 and 14 e. Mutations of epidermal growth factor receptor gene |
b
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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. p53 b. APC c. MSH-2 gene affecting DNA mismatched repair d. Retinoblastoma gene (Rb) e. A reciprocal translocation involving chromosomes 8 and 14, t(8;14) |
c
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Which of the following is not an HLA-linked disease?
a. narcolepsy b. ankylosing spondylitis c. Reiter's disease d. none of the above e. all of the above are HLA-associated |
e
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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 e. mosaic trisomy 2 |
cThis baby has trisomy 18, also known as Edwards syndrome. This trisomy presents with low birthweight clenched fists with overlapping fingers (2nd over 3rd and 4th over 5th), rocker-bottom feet, micrognathia, simple arch patterns on finger pads, and cardiac and renal malformations. Renal abnormalities include hydronephrosis and a small penis; a small penis can be seen with trisomy 21 as well. Trisomy 8, also known as mosaicism, occurs in 1/20,000 births and can present with a long face; wide, upturned nose; low-set ears; high arched and occasionally cleft palate. They have moderate mental retardation, and osteoarticular anomalies are seen. Trisomy 13, also known as Patau syndrome, occurs in 1/10,000births and classically presents with midline cleft lip, microcephaly and/or holoprosencephaly, hypotelorism, polydactyly, bulbous nose, and cardiac malformations. Trisomy 21, also known as Down syndrome, occurs in 1/600-800 births, with increasing rates as mother ages. Other chromosomal anomalies are the cause of 5% of phenotypic Down syndrome. Trisomy 23 is not a recognized syndrome; the 23rd chromosome is the sex chromosome
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Meiotic drive has been demonstrated in humans in which of the following populations
a. female carriers of a balanced Robertsonian translocation b. male carriers of a balanced paracentric inversion c. female carriers of an apparently benign extra small marker chromosome d. male carriers of a balanced reciprocal translocation e. females with mosaic Down syndrome |
a
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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. Overexpression of zeta-globin compensates for the missing beta-chain d. The oxygen needs of a newborn are minimal e. The gamma to beta-globin switch is not complete until several months after birth |
e
Infants with severe beta-thalassemia major are well at birth, because the production of beta globin is not essential during fetal life and the immediate perinatal period. Symptoms emerge late in the first year of life when fetal hemoglobin (alpha2/gamma2) levels decline. As the deficit in adult hemoglobin (alpha2/beta2) production becomes important, patients develop chronic anemia, suffer from the effects of profound hemolysis, and ineffective erythropoiesis upon the body |
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Both Type I and Type II osteogenesis imperfecta (OI) are inherited in an autosomal dominant fashion and are usually caused by mutations in the alpha 1(I) collagen gene. Most mutations causing the milder OI Type I are null mutations, whereas, those causing the perinatal lethal OI Type II OI are usually missense mutations. Why is the phenotype of OI type II so much more severe
a. All of the procollagen molecules are normal, but their total quality is reduced by 50% b. 50% of the procollagen molecules are abnormal c. 75% of the procollagen molecules are abnormal d. 100% of the procollagen molecules are abnormal e. The reason for the disparity is unknown |
cType I collagen is trimer composed of two alpha 1 chains and one alpha 2 chain. When there is a null mutation in one of the alpha 1 genes, as is seen with Type I OI, only half the amount of alpha 1 protein is produced. This results in half as many collagen trimers, but all of them are normal. However, the missense mutation in OI type II allows the synthesis of normal amounts of the altered collagen subunit. The resulting mutant alpha 1 protein can still form trimers, but causes abnormal collagen in the trimers which contain it. A missense mutation in one of two genes for alpha 1 causes half of the proteins produced to be defective, but when they combine into trimers with alpha 2, 75% of the resulting collagen strands are abnormal. The four types of trimers made are alpha1/alpha1/alpha2 (which is normal), plus the abnormal trimers: alpha1/mutated-alpha1/alpha2, mutated-alpha1/alpha1/alpha2, and mutated- alpha1/mutated-alpha1/alpha2
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58:
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. Glucose 6-phosphatase deficiency d. Ornithine transcarbamoylase deficiency e. Phenylalanine hydroxylase deficiency |
d. Ammonia is a byproduct of amino acid metabolism and is very toxic. It is transported as either glutamine or glutamate to the liver where it enters into the urea cycle. In the urea cycle, free ammonia is converted into carbomoyl phosphate. Ornithine transcarbamylase then catalyzes the donation of the carbamoyl group from carbamoyl phosphate to ornithine forming citrulline, which continues onto the next step of the cycle Ornithine transcarbamylase deficiency (OTC), an X-linked disorder, is the most common of the urea cycle defects. Affected males appear well for the first 24 to 48 hours after birth. The infant becomes symptomatic after feeding has started because human milk or formula provides a protein load. Initial signs include somnolence and poor feeding, usually followed by vomiting, lethargy, and coma. The progressive encephalopathy is caused by hyperammonemia. The diagnosis of OTC deficiency can be confirmed by enzyme analysis of tissue samples obtained by liver biopsy. Therapy of the hyperammonemia consists of administration of sodium phenylacetate and sodium benzoate. These drugs scavenge ammonia by creating an alternate pathway to excrete nitrogen precursors Patients suffering from a branched-chain alpha-ketoacid dehydrogenase complex deficiency (choice A) lack the second enzyme of the metabolic pathway of the three branched-chain amino acids, leucine, isoleucine, and valine. They have maple syrup urine disease, which is characterized by psychomotor retardation, feeding problems, and a maple syrup odor of the urine. Patients suffering from a glucose 6-phosphatase deficiency, or von Gierke disease (choice B), cannot release glucose from their livers. The disease typically presents in early infancy with hepatomegaly, hypoglycemia (and related signs such as seizures), and lactic acidosis. Lipoprotein lipase is located on the surface of capillary endothelium. It degrades triglycerides in the chylomicrons and VLDLs. Patients with a lipoprotein lipase deficiency (choice C) experience severe, pancreatitis-like abdominal pain after meals rich in fat. Physical findings are remarkable for the presence of eruptive xanthomas and an enlarged liver and spleen. Patients suffering from a phenylalanine hydroxylase deficiency (choice E) have phenylketonuria. They are unable to breakdown phenylalanine into tyrosine. Instead, phenylalanine is converted into phenylketones which can lead to severe mental retardation
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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. 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 a transcription factor d. Mutations in the gene, encoding the protein neurofibromin e. Mutations in a gene that repairs the damage to DNA caused by ultraviolet light |
b
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A patient with mild mental retardation, preauricular tags, downslanting palpebral fissures, and coloboma of the iris is karyotyped, and it is not a surprise to you that the laboratory reports that they have found which of the following abnormalities
a. a distal 1p deletion b. mosaic trisomy 8 c. a 22q deletion d. an extra marker chromosome e. a duplication in proximal 15q |
d
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Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21?
nuchal thickening duodenal atresia echogenic bowel choroid plexus cyst |
CPC
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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
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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
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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
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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?
breast cancer leukemia osteosarcoma pineal blastoma |
osteosarcoma
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Which of the following techniques would be used to detect a previously identified germline APC mutation in an unaffected first-degree relative?
site-specific sequencing full gene sequencing heteroduplex analysis protein truncation assay |
site-specific sequencing
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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
she is only 9 weeks, she has time for screening still and isn't in amnio/cvs window anyway. 1st step |
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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
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A genetic counselor meets with the parents of a 15-year-old girl who was recently diagnosed with Turner syndrome. The parents do not want their daughter to be informed about her diagnosis because they feel that it will upset her and they prefer to wait and tell her themselves when they think that she is ready. Which of the following is the BEST approach by the counselor?
a. discuss strategies for talking about this diagnosis with girls her age b. encourage the parents to join the local Turner syndrome support group c. honor the parents' request because the patient is a minor d. insist they share the diagnosis with their daughter as soon as possible |
a
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A 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? (3)
a. encourage her to engage in self-reflection b. help her identify the source of her feelings c. discuss with her ways to minimize transference d. share with her that this reaction is not unusual |
a,b, and d
transference is on counselor from client |
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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 |
b
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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 e. Vitamin replacement therapy for biotinidase deficiency |
d
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Which of the following metabolic disorders is exacerbated by prolonged fasting?
Wilson disease Medium chain acyl CoA dehydrogenase deficiency Zellweger syndrome Fabry disease |
MCAD
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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 B b. Gardner syndrome c. Hereditary breast and ovarian cancer syndrome d. All of the above e. A and B f. B and C |
e
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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. Canavan disease b. Tay-Sachs disease c. Gaucher disease d. All of the above e. A and B f. B and C |
f
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Which of the following disorders is not caused by a gain of function mutation?
Achondroplasia Charcot-Marie Tooth disease type 1A Trisomy 21 Neurofibromatosis 1 |
NF1
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Which of the following is not a potential cause for a symptomatic female in the case of a X-linked recessive disorder
a. X;14 translocation b. Monosomy X c. Skewed X inactivation d. None of the above |
d
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Which of the following parental chromosome abnormalities would be least likely to result in a liveborn offspring with an abnormal karyotype 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
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Which of the following disorders would not require counseling about the potential risk for malignancy or tumor development
Beckwith-Weidemann syndrome Klinefelter syndrome Turner syndrome Fragile X syndrome |
Fragile X
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dentify the incorrect pairing of cause and effect for male infertility
a. F508 in CFTR gene: Nonobstructive azoospermia b. F508 in CFTR gene: Obstructive azoospermia c. t(3:11)(q12;p15.5): Oligospermia d. 47, XXY: Nonobstructive azoospermia |
a
*this seems wrong |
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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?
45, X 46, XY 47, XX, +21 47, XXY |
b
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Which of the following prenatally identified chromosomal abnormalities has the greatest risk for an abnormal offspring?
Balanced robertsonian translocation Inversion Marker chromosome Reciprocal chromosome translocation |
marker chromosome
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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 e. None of the above |
d
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Which of the following resources would not provide you with support information for a family with a new diagnosis of neurofibromatosis type 1?
a. Genetic Alliance b. National Organization for Rare Disorders c. Neurofibromatosis, Inc d. Online Mendelian Inheritance in Man e. None of the above |
d
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Which of the following is not 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. Reason for seeking testing/evaluation now e. None of the above f. A, B, & C |
e
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Which of the following would not 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. Mutations in SDH genes e. None of the above |
e
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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 e. All of the above |
c
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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
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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
Reflecting Clarifying Rephrasing Redirecting |
b
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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 |
a
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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
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Which of the following birth defects has a higher incidence among female infants versus male infants
a. Anencephaly b. Pyloric stenosis A & B |
a
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Which of the following findings is most likely associated with a multiple marker screen of ↓MSAFP ↑hCG ↓uE3 ↑Inhibin A
a. Trisomy 18 b. Trisomy 21 c. Spontaneous abortion d. Gestational age less than dates e. A& D f. B& D |
f
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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. |
a
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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. Has the child had a hearing test d. Maternal exposures during pregnancy, particularly alcohol |
d
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Which of the following is NOT a major diagnostic criterion for Marfan syndrome?
a. Scoliosis with a curve greater than 20 degrees b. Tooth crowding and highly arched palate c. Arm-span to height ratio >1.05. d. Pes planus |
b
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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
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Theories from behavioral psychology can be helpful in understanding a client. Which theory places importance on the individual and their environment and the reciprocal interaction between the two?
Operant conditioning theory. Theory of reasoned action. Social learning theory Consumer information processing theory. |
Social Learning
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With regard to the GALT gene, which mutation makes up 70% of the classical galactosemia alleles among Northern European Caucasians?
a. Q188R (Gln188Arg) b. K304E (Lys304Glu) c. N370S (Asp370Ser) d. N314D (Asn314Asp) |
a
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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
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Think of the biochemical disorder that often presents with myoglobinuria and markedly elevated serum creatine kinase (CK) after prolonged exercise, exposure to the cold, or other stress - - what is the inheritance pattern?
a. Autosomal dominant b.Autosomal recessive c. X-linked recessive d. Mitochondrial |
b
should be thinking of carnitine palmitoyltransferase (CPT) II deficiency memorize X-linked. all others AR |
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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
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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 |
a (BWS)
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Think of a disorder with the following distinguishing features: round face with hypertelorism, brachydactyly with mild interdigital webbing, and “shawl” scrotum. What is the inheritance pattern?
a. Y-linked b. Autosomal recessive c. Autosomal dominant d. X-linked recessive |
XLR (Aarskog)
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Of the ultrasound anomalies is MOST likely to be indicative of a chromosome abnormality in the fetus?
a. Unspecified heart defect b. Hydrops c. Cloverleaf skull d. Cystic hygroma |
d
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Approximately what percentage of balanced reciprocal translocations are inherited?
a. 70% b. 20% c. 90% d. 5% |
a
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Used alone, chromosomal microarray fail to diagnose all but which of the following?
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. Trisomy 21 in 30% of cells, with 70% of cells unaffected, resulting in mosaic Down syndrome |
d
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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 p53 gene d. Order testing for large rearrangements in BRCA1 and BRCA2. |
b
?? contradicts other review?- check |
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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. c. The child definitely has either Noonan syndrome, Costello syndrome, or Cardiofaciocutaneous syndrome d. The results are unreliable because there may have been an error at the laboratory. e. You have ruled out Noonan syndrome as a possible diagnosis. |
a
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A family history significant for sarcomas, brain tumors, leukemia, and breast cancer diagnosed in the 20s is most suggestive of what?
Hereditary breast and ovarian cancer. These tumors are not related. The family does not have a hereditary cancer syndrome Peutz-Jeghers syndrome Li-Fraumeni syndrome |
LFS
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While each of the following has a differential diagnosis of its own, the concurrence of myxomas, endocrine tumors or overactivity, schwannomas, and pigmentary abnormalities of the skin in first-degree relatives should make you MOST suspicious of which diagnosis?
a Cowden syndrome. Carney complex McCune-Albright syndrome Neurofibromatosis type I |
Carney complex
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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. 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
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Which of the following is NOT known to be associated with mutations in the PTEN gene?
Bannayan-Riley-Ruvacalba syndrome Proteus syndrome Cowden syndrome Sotos syndrome |
Sotos syndrome
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