Nursing Care of Patients with Genetic Disorders
Pre-Test Questions
Course Introduction
This course explores the principles and practices of nursing care for patients with genetic disorders across the lifespan. Emphasis is placed on understanding the genetic basis of disease, modes of inheritance, and genetic counseling. Students will learn to assess patients and families, interpret genetic information, and collaborate in the development and implementation of individualized care plans. Through case studies and clinical scenarios, the course highlights the psychosocial, ethical, and legal considerations of genetic testing and diagnosis. Students will also develop communication skills essential for educating patients and families about genetic risks, treatment options, and support resources.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
Available Study Resources on Quizplus
20 Chapters
432 Verified Questions
432 Flashcards
Source URL: https://quizplus.com/study-set/201 Page 2
Chapter 1: DNA Structure and Function
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/2914
Sample Questions
Q1) What is the term used to describe the organized picture of the paired chromosomes within a cell used to determine whether chromosome numbers, structures, and bandingpatterns are normal?
A)Pedigree
B)Phenotype
C)Karyotype
D)Autotype
Answer: C
Q2) Which of these complementary base pairs form the strongest or "tightest" association?
A)Adenine and thymine
B)Cytosine and guanine
C)Guanine and thymine
D)Cytosine and adenine
Answer: B
To view all questions and flashcards with answers, click on the resource link above.
3
Chapter 2: Protein Synthesis
Available Study Resources on Quizplus for this Chatper
31 Verified Questions
31 Flashcards
Source URL: https://quizplus.com/quiz/2915
Sample Questions
Q1) What is the best meaning for the term gene expression?
A)The location of a specific gene allele on a specific autosomal chromosome
B)The specific trait or protein coded for by a single gene is actually present
C)The ability of a single gene to code for more than one trait or characteristic
D)The loss of a trait or characteristic from one family generation to the next generation
Answer: B
Q2) How does replacement of thymine with uracil in messenger RNA help in the process of protein synthesis?
A)Allowing messenger RNA to leave the nucleus
B)Ensuring only the "antisense" strand of DNA is transcribed
C)Determining the placement of the "start" signal for translation
D)Promoting posttranslational modification for conversion to an active protein
Answer: A
Q3) Which process occurs outside of the nucleus?
A)DNA transcription
B)RNA transcription
C)Splicing out of introns
D)Translation of mRNA
Answer: D
To view all questions and flashcards with answers, click on the resource link above.
Page 4
Chapter 3: Genetic Influence on Cell Division, Differentiation,
and
Gametogenesis
Available Study Resources on Quizplus for this Chatper
32 Verified Questions
32 Flashcards
Source URL: https://quizplus.com/quiz/2916
Sample Questions
Q1) In what way is hypertrophic tissue growth more advantageous than hyperplastic tissue growth?
A)There is no limit to how large a tissue or organ can become.
B)It proceeds at the same rate throughout a person's life span.
C)Less energy is required for hypertrophic growth.
D)Differentiated functions change with aging.
Answer: C
Q2) Which cell in the process of oogenesis has the most chromosomes?
A)Mature ovum
B)Primary oocyte
C)Secondary oocyte
D)Polar body
Answer: B
Q3) Why is fertilization of a polar body unlikely to lead to normal embryonic and fetal development?
A)The resulting zygote would be 4N instead of 2N.
B)The lack of cytoplasm would inhibit cellular reproduction.
C)The polar body has spent too long of a time trapped in meiosis I.
D)The resulting zygote would be smaller, which increases the risk for apoptosis.
Answer: B
Page 5
To view all questions and flashcards with answers, click on the resource link above.
Chapter 4: Patterns of Inheritance
Available Study Resources on Quizplus for this Chatper
36 Verified Questions
36 Flashcards
Source URL: https://quizplus.com/quiz/2917
Sample Questions
Q1) With which type of inheritance pattern does the trait or disorder usually first appear among siblings rather than in parents of affected children?
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)Codominant
Q2) Which statement is a criterion for an autosomal-dominant pattern of inheritance of a specific trait or characteristic that is highly penetrant?
A)Carriers for the trait may express it but do not necessarily express the trait.
B)Unaffected family members do not transmit the trait to their children.
C)Genotypes of individuals expressing the trait must be homozygous.
D)The trait appears only among male offspring of female carriers.
Q3) Which type of genetic transmission promotes the continued existence of genetic mutations in single genes?
A)Autosomal dominant
B)Autosomal recessive
C)Codominant
D)Sex-linked
To view all questions and flashcards with answers, click on the resource link above.
Chapter 5: Epigenetic Influences on Gene Expression
Available Study Resources on Quizplus for this Chatper
11 Verified Questions
11 Flashcards
Source URL: https://quizplus.com/quiz/2918
Sample Questions
Q1) How does histone modification alter gene expression?
A)Modified histones result in increased DNA methylation, which increases the transcription of genes in that area.
B)In areas where histones are modified, the DNA is more tightly wound, and genes are not transcribed.
C)Histone modification results in an increase in microRNA production, which inhibits gene expression by preventing translation.
D)Histone modification results in an increase in microRNA production, which promotes gene expression by enhancing translation.
Q2) What would be the expected outcome for a person who has a normal gene allele and an abnormal gene allele for insulin and the area around the abnormal gene allele isheavily methylated?
A)Normal insulin is produced in normal amounts.
B)Normal insulin is produced in lower-than-normal amounts.
C)Abnormal insulin is produced in normal amounts.
D)Abnormal insulin is produced in higher-than-normal amounts.
To view all questions and flashcards with answers, click on the resource link above.
Chapter 6: Autosomal Inheritance and Disorders
Available Study Resources on Quizplus for this Chatper
20 Verified Questions
20 Flashcards
Source URL: https://quizplus.com/quiz/2919
Sample Questions
Q1) Which feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome?
A)Light skin, eye, and hair coloring
B)Continuous smiling and jerky gait
C)Excessive appetite and weight gain
D)Progressive tremors and seizure activity
Q2) Which autosomal condition or syndrome commonly features a cleft lip and palate?
A)Angelman syndrome
B)Cri du chat
C)Edward syndrome
D)Prader-Willi syndrome
Q3) What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood?
A)Mosaicism of trisomy 21 in various tissues
B)Inaccurate technique for chromosomal analysis
C)Uniparental disomy for somatic cells but not for germ cells
D)Selective chromosome loss during meiosis II of gametogenesis
To view all questions and flashcards with answers, click on the resource link above. Page 8
Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
Available Study Resources on Quizplus for this Chatper
20 Verified Questions
20 Flashcards
Source URL: https://quizplus.com/quiz/2920
Sample Questions
Q1) Which feature is common among people who have Klinefelter syndrome (47,XXY) or a karyotype with 47,XXX but not among people who have Down syndrome or Edward syndrome?
A)Severely reduced cognition
B)Cleft palate
C)Tall stature
D)Infertility
Q2) Which health screening activity is most important for girls and women with Turner syndrome?
A)Mammography
B)Test for osteoarthritis
C)Blood pressure screening
D)Pulmonary function testing
Q3) A male patient is tall and has some gynecomastia along with a low sperm count. During infertility testing, he was found to have a 47,XXY karyotype. Which disorder isconsistent with these findings?
A)Normal male
B)Turner syndrome
C)Klinefelter syndrome
D)Testicular feminization syndrome
To view all questions and flashcards with answers, click on the resource link above. Page 9
Chapter 8: Family History and Pedigree Construction
Available Study Resources on Quizplus for this Chatper
20 Verified Questions
20 Flashcards
Source URL: https://quizplus.com/quiz/2921
Sample Questions
Q1) When constructing a pedigree around a specific health problem, what is the minimal number of generations needed to accurately assess the presence or absence ofa genetic factor in disease development?
A)One
B)Two
C)Three
D)Four
Q2) Which activity would a general registered nurse be expected to perform as part of genomic care?
A)Calculating recurrence risk for parents who have just had a child with nondisjunction Down syndrome
B)Informing a patient that his test results are positive for a genetic disorder
C)Obtaining an accurate family history and physical assessment data
D)Requesting a consultation visit from a clinical geneticist
Q3) Which pair of relatives represents a first-degree relationship?
A)Grandfather and grandson
B)Aunt and nephew
C)Sister and brother
D)Two cousins
To view all questions and flashcards with answers, click on the resource link above.
Page 10
Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
Available Study Resources on Quizplus for this Chatper
17 Verified Questions
17 Flashcards
Source URL: https://quizplus.com/quiz/2922
Sample Questions
Q1) What is the best action to take when you observe the presence of a smooth philtrum on a young child?
A)Obtain a genetics referral as soon as possible.
B)Assess for the presence of any other dysmorphic features.
C)Document the finding in the medical record as the only action.
D)Gently explain to the parents that this finding is cause for concern.
Q2) How is a congenital anomaly that requires intervention or management categorized?
A)A dysmorphology
B)A major anomaly
C)A minor anomaly
D)A disruption
Q3) What mechanism results in the malformation of cleft lip?
A)An abnormal developmental process
B)An abnormal organization of cells
C)A mechanical process
D)The breakdown of an originally normal developmental process
To view all questions and flashcards with answers, click on the resource link above.
Page 11
Chapter 10: Enzyme and Collagen Disorders
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/2923
Sample Questions
Q1) Which ethnic group has the highest incidence of Gaucher disease?
A)Ashkenazi Jews
B)Asian Americans
C)American Indians
D)Individuals of Mediterranean descent
Q2) Which health problem could be expected as a result of a gene mutation that affects the correct production and function of type 1 collagen?
A)Failure of blood to clot after minor trauma
B)Increased incidence of arterial and venous aneurysms
C)Increased incidence of hearing loss among children and adults
D)Restrictive lung disease from excessive stiffening of alveolar walls
Q3) Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)?
A)Increased intake of phenylalanine; decreased intake of tyrosine
B)Increased intake of phenylalanine; increased intake of tyrosine
C)Decreased intake of phenylalanine; decreased intake of tyrosine
D)Decreased intake of phenylalanine; increased intake of tyrosine
To view all questions and flashcards with answers, click on the resource link above. Page 12
Chapter 11: Common Childhood-Onset Genetic Disorders
Available Study Resources on Quizplus for this Chatper
34 Verified Questions
34 Flashcards
Source URL: https://quizplus.com/quiz/2924
Sample Questions
Q1) Which statement regarding Duchenne muscular dystrophy (DMD) is true?
A)Females are not affected.
B)Because DMD is X-linked recessive, females are affected, and males are carriers.
C)Because DMD is X-linked recessive, males are affected, and females are carriers.
D)The sons of women who are older than age 40 when pregnant are at an increased risk for DMD.
Q2) Which statement about achondroplasia is true?
A)Females are affected twice as often as males.
B)The affected infant's appearance at birth is normal.
C)The protein impaired by the mutation is the receptor for fibroblast growth factor.
D)Transmission is less of a problem among males with achondroplasia because they are usually infertile.
Q3) Which ethnic group has the highest incidence of cystic fibrosis (CF)?
A)Asian Americans
B)African Americans
C)Hispanic Americans
D)European Americans
To view all questions and flashcards with answers, click on the resource link above. Page 13
Chapter 12: Common Adult-Onset Disorders
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/2925
Sample Questions
Q1) What factors increase the clinical severity of -1 antitrypsin (ATT) deficiency?
1) Whether or not the person smokes
2) Whether or not the person uses alcohol
3) The severity of disease in affected relatives
4) The specific alleles of the genes inherited
A) 1 and 4
B) 2 and 3
C) 2 and 4
D) 4 only
Q2) What is the inheritance pattern for -1 antitrypsin (ATT) deficiency?
A)Autosomal dominant
B)Autosomal recessive
C)Autosomal codominant
D)Sex-linked recessive
Q3) Which type of maturity-onset diabetes of the young (MODY) is the most common?
A)MODY-1
B)MODY-2
C)MODY-3
D)MODY-4
To view all questions and flashcards with answers, click on the resource link above.
Page 14
Chapter 13: Cardiovascular Disorders
Available Study Resources on Quizplus for this Chatper
23 Verified Questions
23 Flashcards
Source URL: https://quizplus.com/quiz/2926
Sample Questions
Q1) What do the known monogenic disorders that result in the expression of hypertension have in common?
A)An error in the ability of vascular smooth muscle to contract
B)An error in the ability of vascular smooth muscle to relax
C)Excessive kidney reabsorption of sodium
D)Excessive kidney excretion of potassium
Q2) Which physical finding in a 30-year-old man suggests the possibility of familial hypercholesterolemia?
A)Lipomas
B)Xanthomas
C)Osteoarthritis
D)Hemangiomas
Q3) Which health problem is the most frequent cause of sudden cardiac death among young athletes?
A)Atrial fibrillation
B)Hypertrophic cardiomyopathy
C)Familial hypercholesterolemia type 1
D)Romano-Ward form of long QT syndrome
To view all questions and flashcards with answers, click on the resource link above.
15
Chapter 14: The Genetics of Cancer
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/2927
Sample Questions
Q1) How is a complete carcinogen different from an incomplete carcinogen?
A)Complete carcinogens damage oncogenes, and incomplete carcinogens damage suppressor genes.
B)Complete carcinogens damage suppressor genes, and incomplete carcinogens damage oncogenes.
C)Incomplete carcinogens are more likely to induce sporadic cancers.
D)Complete carcinogens are more likely to induce sporadic cancers.
Q2) Which characteristic(s) is/are associated with an inherited predisposition for a cancer type?
A)Cancers tend to appear at an earlier age than do "sporadic" cancers.
B)These cancers are not picked up by routine cancer screening methods.
C)The carcinogenesis stage of "promotion" is not required for cancer development.
D)They are passed on only to the children of the same gender as the parent with the predisposition.
Q3) Which cancer type is associated with a 9;22 translocation t(9;22)?
A)Acute promyelocytic leukemia
B)Acute lymphocytic leukemia
C)Chronic lymphocytic leukemia
D)Chronic myelogenous leukemia
To view all questions and flashcards with answers, click on the resource link above.
Page 16
Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
Available Study Resources on Quizplus for this Chatper
15 Verified Questions
15 Flashcards
Source URL: https://quizplus.com/quiz/2928
Sample Questions
Q1) What is the heritability estimate for addiction to alcohol in both males and females?
A)10% to 20%
B)20% to 40%
C)50% to 60%
D)60% to 80%
Q2) Which statement about attention deficit hyperactivity disorder (ADHD) is true?
A)The problem is more common among girls whose fathers also had the disorder.
B)By the time a person with ADHD reaches adulthood, all symptoms have resolved.
C)It is a complex disorder caused by gene variants along with environmental contributions.
D)Symptoms of the disorder are ameliorated when the person sleeps more soundly as a result of pharmacologic intervention.
Q3) Which assessment finding in a 3-year-old child increases the suspicion for a possible diagnosis of autism spectrum disorder?
A)Language skills are delayed.
B)The child is very near-sighted.
C)Height is below the 5th percentile.
D)The child does not sit still during the assessment interview.
To view all questions and flashcards with answers, click on the resource link above. Page 17
Chapter 16: Genetic and Genomic Testing
Available Study Resources on Quizplus for this Chatper
14 Verified Questions
14 Flashcards
Source URL: https://quizplus.com/quiz/2929
Sample Questions
Q1) Genetic testing of an asymptomatic woman whose sister is positive for the mutation that is responsible for an autosomal-dominant disorder that has a 70% penetrance ratewould fall into which testing category?
A)Diagnostic predisposition
B)Diagnostic presymptomatic
C)Predictive predisposition
D)Predictive presymptomatic
Q2) When is fluorescence in situ hybridization (FISH) most likely to be used?
A)To find a gene associated with a particular disease
B)To determine whether a stillborn infant has trisomy 13
C)To determine the carrier status of a child whose sister has cystic fibrosis
D)To establish a diagnosis for a possible adult-onset single-gene disorder
Q3) Which type of genetic testing is the most sensitive method for detecting any mutation in a specific gene?
A)Immunohistochemistry
B)Direct DNA sequencing
C)Banded chromosomal analysis
D)Fluorescence in situ hybridization
To view all questions and flashcards with answers, click on the resource link above. Page 18
Chapter 17: Assessing Genomic Variation in Drug Response
Available Study Resources on Quizplus for this Chatper
17 Verified Questions
17 Flashcards
Source URL: https://quizplus.com/quiz/2930
Sample Questions
Q1) What would be the patient's response to a normal drug dose that, because of a genetic variation in an enzyme that prepares the drug for elimination, results ina blooddrug level that is below the minimum effective concentration (MEC)?
A)Drug entry exceeds drug elimination.
B)The risk for toxic side effects is increased.
C)The intended response fails to be produced.
D)The drug's duration of action is longer than expected.
Q2) A patient with a fractured elbow in the emergency department states that he needs morphine for pain rather than codeine because the last time he had a painfulinjury,codeine was not effective in managing his pain. What is the nurse's best response or action?
A)Ask the patient how much alcohol he ingests daily.
B)Communicate this information to the admitting physician.
C)Alert the health-care provider that this patient is "drug-seeking."
D)Reassure the patient that he will receive progressively higher dosages of codeine until his pain is controlled.
To view all questions and flashcards with answers, click on the resource link above.
19
Chapter 18: Health Professionals and Genomic Care
Available Study Resources on Quizplus for this Chatper
11 Verified Questions
11 Flashcards
Source URL: https://quizplus.com/quiz/2931
Sample Questions
Q1) Why do genetic counseling programs include extensive courses on laboratory methods in genetics?
A)So that the certified genetics counselor can serve as a backup genetics technician in small laboratories
B)So that the certified genetics counselor can perform standard karyotyping on routine blood specimens
C)So that the certified genetics counselor can help patients understand testing procedures and results
D)So that the certified genetics counselor is able to draw blood proficiently and safely
Q2) Awoman's family history for breast cancer includes two paternal aunts who developed breast cancer before age 45. Which genetics professional would be most appropriatefor assistance in helping this patient understand the health risk posed by this family history?
A)Medical geneticist
B)Genetic counselor
C)Clinical geneticist
D)Clinical laboratory geneticist
To view all questions and flashcards with answers, click on the resource link above.
Page 20
Chapter
Available Study Resources on Quizplus for this Chatper
9 Verified Questions
9 Flashcards
Source URL: https://quizplus.com/quiz/2932
Sample Questions
Q1) What should be told to the patient who has been found to have a genetic mutation that increases the risk for colon cancer and says he does not want any of hisfamilytoknow about this result?
A)"It is required by law that you inform your siblings and your children about this result so that they also can be tested and monitored for colon cancer."
B)"It is not necessary to tell your siblings because they are adults, but you should tell your children so that they can be tested before they decide to have children of their own."
C)"It is not required that you tell anyone about this result; however, because your siblings and children may also be at risk for colon cancer, you should think about how this information might help them."
D)"It is your decision to determine with whom, if anyone, you share this test result; however, if you do not tell any of your family members and they get colon cancer, you would be responsible for their development of the disease."
To view all questions and flashcards with answers, click on the resource link above. Page 21
Chapter 20: Genetic and Genomic Variation
Available Study Resources on Quizplus for this Chatper
12 Verified Questions
12 Flashcards
Source URL: https://quizplus.com/quiz/2933
Sample Questions
Q1) What is the main purpose of population genetics?
A)Determining the factors that allow allelic frequencies to change over time
B)Determining the geographic origins of specific genetic-based disorders
C)Assessing the effects of assortive mating on natural selection and evolution
D)Assessing the differences between race and ethnicity for susceptibility and resistance to infectious diseases
Q2) The Black Death was a pandemic spreading across Europe between 1348 and 1350. Estimates state that 30% to 60% of Europe's population died from the Black Death.If welook at Europe's population before the pandemic and compare it to the population several generations later, what are we likely to find?
A)More genetic diversity in later generations
B)Less genetic diversity in later generations
C)Less genetic diversity in earlier generations
D)The same degree of genetic diversity in later as in earlier generations
Q3) Why is it important to consider population genetics?
A)Natural selection can increase genetic diversity.
B)Accurate assessment of a person's ethnicity can be identified from DNA.
C)Disease risk can vary as a result of the geographic origin of one's ancestors.
D)Knowing ethnicity allows accurate prediction of Huntington disease risk.
To view all questions and flashcards with answers, click on the resource link above.
Page 22