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Exam Question Practice Flashcards

1
Q

What is the term for a woman with advanced breast cancer who abruptly states she does not need genetic counseling?

A

Distancing

This reflects a psychological coping mechanism where the individual distances themselves from the situation.

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2
Q

What is the most common cause of congenital heart defects in newborns?

A

22q11.2 deletion syndrome

This syndrome is frequently associated with congenital heart defects.

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3
Q

Which of the following is NOT a common trigger for sudden cardiac events in individuals with long QT syndrome?

A

Fever

Triggers typically include sleep/rest, emotion, and vigorous exercise.

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4
Q

What emotional response is the mother expressing when she says the cleft lip is punishment for considering termination?

A

Guilt

This reflects feelings of guilt associated with past decisions regarding pregnancy.

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5
Q

What is the most appropriate intervention for a father expressing grief and difficulties at a follow-up appointment for Angelman syndrome?

A

Refer patient for mental health services

This is essential for addressing ongoing emotional distress.

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6
Q

What term describes a slow heart rate?

A

Bradycardia

This is the medical term for a heart rate that is slower than normal.

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7
Q

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 they ‘will be ok’ or ‘it’s not as bad as you think’

This approach can undermine the patient’s feelings and is not supportive.

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8
Q

What is spinal muscular atrophy characterized by?

A

Loss of anterior horn cells in the spinal cord

This condition leads to muscle weakness and atrophy.

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9
Q

True or False: CHARGE syndrome includes genital defects.

A

True

CHARGE syndrome is characterized by a range of congenital anomalies including genital defects.

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10
Q

What is the likely diagnosis for a newborn with extreme hypotelorism, microcephaly, and seizures?

A

Holoprosencephaly

This condition is associated with severe brain malformations.

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11
Q

Fill in the blank: The genetic information nondiscrimination act of 2008 protects individuals from discrimination based on _______.

A

[genetic information]

It aims to prevent discrimination in health insurance and employment.

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12
Q

Which of the following features is associated with CHARGE syndrome?

A
  • Coloboma (iris and retina)
  • Hearing defects
  • Genital defects
  • All of the above
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13
Q

What is the probability that a woman who tested negative for 70 CF mutations is a heterozygous carrier of cystic fibrosis?

A

2/3

The probability is calculated based on carrier frequency in the population.

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14
Q

What is the molecular cause of xeroderma pigmentosum?

A

Mutations in a gene that repairs the damage to DNA caused by UV light

This condition leads to increased sensitivity to sunlight and a higher risk of skin cancers.

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15
Q

Which of the following is an example of reduced penetrance?

A

A woman has a father and granddaughter with a split hand deformity; her hands and feet are normal in appearance and by x-ray

This indicates that not all individuals with the mutation express the phenotype.

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16
Q

What principle of medical ethics does the nondirective nature of genetic counseling arise from?

A

Autonomy

Respecting the patient’s right to make their own decisions is fundamental in genetic counseling.

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17
Q

Which testing method is most useful for conditions with few common mutations?

A

Massively parallel sequencing

This method allows for comprehensive analysis of genetic variations.

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18
Q

What is the expected outcome for a healthy 3-day-old male infant presenting with lethargy and seizures?

A

Ornithine transcarbamylase deficiency

This condition can lead to severe hyperammonemia and neurological symptoms.

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19
Q

True or False: A participant in a research study can never withdraw from the study without penalty.

A

False

Participants usually have the right to withdraw at any time.

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20
Q

What is the term for the condition where a child has overlapping fingers and abnormal finger pad patterns?

A

Mosaic trisomy 8

This genetic condition can lead to various physical anomalies.

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21
Q

Which of the following is NOT a feature of anticonvulsant embryopathy?

A

Finger nail hypoplasia

This feature is not typically associated with anticonvulsant medications during pregnancy.

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22
Q

What is the protective advantage of G6PD deficiency in certain populations?

A

Protective advantage

This condition offers some resistance to malaria, explaining its prevalence.

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23
Q

Which gene is most likely to have a defect in a patient with a family history of colon cancer?

A

MSH2

This gene is associated with hereditary nonpolyposis colorectal cancer (Lynch syndrome).

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24
Q

What is the most likely diagnosis for a child with tumors and a history of benign lesions, diagnosed with xeroderma pigmentosum?

A

Mutations in a gene that repairs the damage to DNA caused by UV light

This condition leads to increased risk of skin malignancies due to DNA repair deficiencies.

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25
What is the molecular cause of xeroderma pigmentosum?
Mutations in a gene that repairs the damage to DNA caused by UV light ## Footnote Xeroderma pigmentosum is characterized by extreme sensitivity to UV light and a predisposition to skin cancer.
26
Which feature identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21?
Nuchal thickening ## Footnote Nuchal thickening is a marker that can indicate potential chromosomal abnormalities.
27
What is the BEST next step for a genetic counselor after introductions with a family discussing Charcot-Marie-Tooth disease?
Collect a family and medical history ## Footnote Understanding family and medical history is crucial for effective genetic counseling.
28
What results would be expected in a first trimester pregnancy at highest risk for Down syndrome?
Low PAPP-A, high hCG, increased NT ## Footnote These markers are commonly assessed in prenatal screening for Down syndrome.
29
What is the BEST response to a patient stating that her children are at 50% risk for polycystic kidney disease?
Explain that she does not meet diagnostic criteria and recommend an affected relative have DNA testing ## Footnote Clear communication about genetic risk is essential in counseling.
30
Which features identified by prenatal ultrasound are suggestive markers for 22q11.2 deletion syndrome?
All of the above: *Absent thymus* *Congenital heart defect* *Polyhydramnios* ## Footnote 22q11.2 deletion syndrome can present with multiple congenital anomalies.
31
What additional cancer is a 12-year-old girl with a history of bilateral retinoblastoma MOST likely to develop?
Osteosarcoma ## Footnote Patients treated with radiotherapy for retinoblastoma are at increased risk for secondary cancers.
32
What is the BEST first step in counseling a pregnant woman concerned about Down syndrome due to a family history?
Karyotype her to determine whether she has a translocation ## Footnote Karyotyping can help assess genetic risk in pregnancies.
33
Which statement should concern a genetic counselor about a patient with negative BRCA results?
My sister is not at an increased risk for breast cancer ## Footnote Understanding familial risk is important even with negative test results.
34
What is the BEST approach for a genetic counselor when parents do not want their daughter informed about her Turner syndrome diagnosis?
Discuss strategies for talking about this diagnosis with girls her age ## Footnote Communication strategies can help parents navigate sensitive topics.
35
What is the probability that the proband's daughter has inherited the familial mutation if a trait has a population frequency of 1 in 40,000?
1/200 ## Footnote Understanding inheritance probabilities is key in genetic counseling.
36
Which of the following is not a possible treatment for Hurler syndrome?
Liver transplant for galactosemia ## Footnote Treatments are specific to each disorder and their underlying metabolic issues.
37
Which metabolic disorder is exacerbated by prolonged fasting?
Medium chain acyl CoA dehydrogenase deficiency ## Footnote Fasting can lead to metabolic crises in affected individuals.
38
For which disorder would diagnostic genetic testing of a child be of potential benefit for early treatment and management?
All of the above: *Multiple endocrine neoplasia type II A* *MUTYH-associated polyposis* *Hereditary breast and ovarian cancer syndrome* ## Footnote Early diagnosis can significantly impact management and outcomes.
39
Which adult onset form should genetic counselors inform patients about when testing for Ashkenazi Jewish genetic diseases?
Tay sachs disease ## Footnote Awareness of carrier status for specific disorders is crucial for family planning.
40
What is the MOST important understanding for parents after gene testing for Noonan syndrome shows no mutation?
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 ## Footnote Genetic testing can have limitations in diagnosis.
41
Which parental chromosome abnormalities would be least likely to result in a liveborn offspring with an abnormal phenotype?
Inv(5)(p14p12.2) ## Footnote Some chromosomal rearrangements are more benign than others.
42
Which disorder would not require counseling about the potential risk for malignancy?
Fragile X syndrome ## Footnote While Fragile X is associated with developmental issues, it does not typically carry a malignancy risk.
43
What is the most likely karyotype given a fetal nuchal translucency measurement of 2x the normal range?
47,XX,+21 ## Footnote Increased nuchal translucency is a marker for Down syndrome.
44
Which prenatally identified chromosomal abnormality has the greatest risk for an abnormal offspring?
Balanced robertsonian translocation ## Footnote Balanced translocations can lead to unbalanced gametes in offspring.
45
Which disorder is not thought to be caused by uniparental disomy in some cases?
Alagille syndrome ## Footnote Uniparental disomy is associated with specific genetic disorders.
46
What is an issue to consider when providing counseling for pre-symptomatic testing in an adult?
All of the above: *Current emotional well-being* *Coping strategies* *What will be done with a positive or negative result* ## Footnote Emotional and psychological support is crucial in genetic counseling.
47
Which condition should be considered in the differential for a child with isolated pheochromocytoma?
All of the above: *Von hippel lindau syndrome* *Multiple endocrine neoplasia type 2* *Neurofibromatosis type 1* ## Footnote These syndromes can be associated with pheochromocytomas.
48
What issue would be least important for a genetic counselor to consider in a case of a woman with uterine cancer and a history of colon cancer?
Ages at death for patient’s parents ## Footnote Family history is important, but direct medical history is more relevant.
49
Which isolated prenatal ultrasound finding is most likely due to a chromosomal abnormality?
Cystic hygroma ## Footnote Cystic hygroma is often associated with chromosomal abnormalities, including Turner syndrome.
50
What is the counselor's response when asking the father how he is doing after the diagnosis of trisomy 18?
Clarifying ## Footnote Clarifying responses help ensure understanding of emotional states.
51
What percentage of individuals with 22q11.2 deletion have an inherited familial mutation?
10% ## Footnote Understanding the inheritance patterns can help with family planning.
52
Which statement about multiculturalism is not true?
Language is the only cultural barrier to communication in the medical setting ## Footnote Cultural barriers are multifaceted and not limited to language.
53
What is the violation when a genetic counselor mentions meeting another relative while collecting family history?
Confidentiality ## Footnote Maintaining confidentiality is paramount in genetic counseling.
54
Which finding is most likely associated with a multiple marker screen of low MSAFP, low hCG, low estriol (uE3), and low inhibin A?
Trisomy 18 ## Footnote These markers can indicate an increased risk for specific chromosomal abnormalities.
55
Which interviewing technique is NOT appropriate for a genetic counseling session?
When working with couples, posing questions to only one of the clients ## Footnote Inclusive questioning is important for effective communication.
56
Which syndrome is NOT known to be associated with mutations in the PTEN gene?
Sotos syndrome ## Footnote PTEN mutations are linked to specific syndromes but not Sotos syndrome.
57
What is the MOST important component of pregnancy and past medical history for a child with growth deficiency and dysmorphic features?
Maternal exposures during pregnancy, particularly alcohol ## Footnote Maternal exposures can significantly impact fetal development.
58
Which is NOT a helpful technique or consideration when counseling adults?
Prepare an agenda before meeting with the client and do not deviate from it ## Footnote Flexibility is important to address the client's needs.
59
Which mucopolysaccharidosis is suspected in a child with neurodegenerative course and significant behavioral problems?
MPSIII (Sanfilippo syndrome) ## Footnote MPSIII is characterized by neurodegeneration and behavioral issues.
60
Which disorder is high on the differential diagnosis in a newborn with ambiguous genitalia and feeding problems?
Smith lemli opitz syndrome ## Footnote This syndrome often presents with diverse congenital anomalies.
61
What is the most likely etiology for a premature infant with macrosomia and hypoglycemia?
Uniparental disomy of chromosome region 11p15 ## Footnote Uniparental disomy can lead to growth abnormalities.
62
Which of the following are invasive cardiac tests?
Heart catheterization ## Footnote Invasive tests are essential for diagnosing certain cardiac conditions.
63
Approximately what percentage of balanced reciprocal translocations are inherited?
20% ## Footnote Understanding inheritance patterns is essential in genetic counseling.
64
What can chromosomal microarray diagnose?
A balanced translocation disrupting the SCN1A gene resulting in epilepsy ## Footnote Chromosomal microarray is a powerful tool in genetic diagnosis.
65
What is the BEST choice for the next step after negative BRCA testing in an Ashkenazi Jewish patient?
Order complete sequencing of BRCA1/2 ## Footnote Further testing may be necessary to identify mutations not detected in initial screening.
66
What should a counselor tell a family after a newborn screening result for cystic fibrosis shows a normal sweat test?
CF is a variable condition ## Footnote CF symptoms can manifest variably, and testing may yield different results over time.
67
What percentage of children are diagnosed with a developmental disability according to the CDC in 2015?
1 in 6 ## Footnote Developmental disabilities are a significant public health concern.
68
A family history significant for sarcomas and breast cancer in the 20s is suggestive of what?
Li-fraumeni syndrome ## Footnote This syndrome is characterized by a predisposition to a variety of cancers.
69
What is the 5382insC mutation associated with?
It is the mutation seen in the patient's family ## Footnote The patient's paternal aunt had this mutation identified through BRCA testing.
70
What is the triad of features associated with 22q11.2 deletion syndrome?
Hypocalcemia, cleft palate, congenital heart defect ## Footnote These features are key indicators of the syndrome.
71
Through which route of administration is the fetus exposed to the least amount of medication?
Topical
72
Which statement about Alzheimer disease is false?
It is the second most common cause of dementia ## Footnote Alzheimer disease is actually the most common cause of dementia.
73
What amount of radiation raises prenatal exposure concern?
10 millirad
74
Individuals with class IV and V mutations in CFTR are more likely to be:
Pancreatic sufficient
75
What ethical principle is the physician following when warning the patient's sister?
Nonmaleficence
76
Under the Genetic Information Nondiscrimination Act of 2008, individual subjects engaged in genetics research can:
Opt out of receiving genetic test results
77
What report is most helpful in ruling out a diagnosis of cystic fibrosis?
Normal pancreatic enzyme levels
78
Exome sequencing can detect which condition?
Early onset Alzheimer disease
79
Huntington disease is characterized by all of the following clinical features except:
Orthopedic
80
The biggest health concern for female carriers of Duchenne muscular dystrophy is:
Cardiomyopathy
81
Individuals with Marfan syndrome are at an increased risk for:
Scoliosis
82
Individuals with dilated cardiomyopathy can generally present with all of the following except:
Decreased LV volume
83
Which APOE allele raises the risk for developing dementia due to Alzheimer’s disease?
E4
84
What coping style is the mother exhibiting when suggesting gene therapy for her son?
Escape-avoidance

Genetic Counseling (6 decks)

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