The nurse has provided a client with basic information about genetics. Which statement would indicate the client has understood the nurse’s instruction?
- “A gene that is mutated is called a wild-type gene.”
- “We get 23 sets of chromosomes from each parent.”
- “Each person has thousands of genes.”
- “The position of a gene is called its site.”
Correct Answer: 3
Rationale 1: Wild-type genes are normal genes.
Rationale 2: Each parent contributes one set of chromosomes to offspring.
Rationale 3: Approximately 25,000 genes are arranged on human chromosomes.
Rationale 4: The position of a gene is called its locus.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Evaluation
Learning Outcome: 6-1: Explore the basics of chromosomes to clarify the definition of mosaicism.
Question 2
Type: MCSA
An infant’s genetic disorder is a result of monosomy. What explanation would the nurse provide to the parents?
- “Your baby is missing a chromosome.”
- “Your baby has an extra set of all the chromosomes.”
- “Your baby has an extra chromosome.”
- “Your baby’s cells are haploid.”
Correct Answer: 1
Rationale 1: Monosomy is a form of aneuploidy characterized by the loss of a single chromosome.
Rationale 2: The presence of an entire extra set of chromosomes is called polyploidy.
Rationale 3: The gain or loss of a chromosome is called aneuploidy. When an extra chromosome is present, it is also called trisomy.
Rationale 4: Only human sex cells are haploid, containing a single set of chromosomes. This explanation is not correct for the baby’s disorder.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 6-1: Explore the basics of chromosomes to clarify the definition of mosaicism.
Question 3
Type: MCSA
The parent of a child profoundly affected by a gene alteration says, “I don’t understand how something so small can cause such problems.” How should the nurse respond?
- “The effects depend on the environment in which the child is raised.”
- “Some children are affected even more than your child.”
- “The degree of effect depends on which gene is damaged and what kind of damage is done.”
- “We don’t think about how we are potentially changing our genes when we expose ourselves to chemical substances.”
Correct Answer: 3
Rationale 1: Genetic defects cause physical changes that are independent of environmental influences.
Rationale 2: It is not therapeutic to tell a parent that other children are more severely affected. This parent is concerned about his or her child, not other children.
Rationale 3: Effects depend on which gene is altered and how much, the locus of the gene, whether material is lost or gained, and how the chromosome is rearranged.
Rationale 4: This is a true statement, but it implies that the child’s disorder was caused by some action by the parents. This may also be true, but it is not therapeutic to place blame in this situation.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 6-1: Explore the basics of chromosomes to clarify the definition of mosaicism.
Question 4
Type: MCSA
An infant was born with a condition resulting from genetic nondisjunction. What information should the nurse consider when developing a teaching plan for the parents?
- Nondisjunction rarely causes profound defects in the child.
- Nondisjunction is associated with pregnancy in older women.
- The primary cause of nondisjunction is fertilization with sperm from an older man.
- The effects of nondisjunction are easily corrected with gene therapy.
Correct Answer: 2
Rationale 1: Nondisjunction is a common cause of genetic disorders, some of which have devastating effects.
Rationale 2: Nondisjunction occurs more frequently in the eggs of women as they get older.
Rationale 3: The cause of nondisjunction is not known.
Rationale 4: The effects of nondisjunction are not correctable with today’s technology.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 6-1: Explore the basics of chromosomes to clarify the definition of mosaicism.
Question 5
Type: MCSA
A child’s genetic disorder is attributed to trisomy. How would the nurse explain this concept to the parents?
- “Trisomy is a mistake that occurs during chromosome sorting as the egg and sperm develop.”
- “Trisomy occurs when part of a chromosome is copied more than once.”
- “Trisomy occurs when part of a chromosome is lost.”
- “Trisomy occurs when a fertilized egg has 47 chromosomes instead of 46.”
Correct Answer: 4
Rationale 1: Nondisjunction occurs as a result of a sorting error.
Rationale 2: Duplication occurs when part of a chromosome is copied more than once. Trisomy is an abnormal number of chromosomes.
Rationale 3: Deletion occurs when part of a chromosome is lost.
Rationale 4: Trisomy occurs when one gamete has 24 chromosomes instead of 23 and joins with a gamete with 23 chromosomes. The resultant zygote has 47 chromosomes.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 6-1: Explore the basics of chromosomes to clarify the definition of mosaicism.
Question 6
Type: MCMA
A client is diagnosed with trisomy mosaicism. How does the nurse interpret this diagnosis?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- Some of the client’s cells have 46 chromosomes.
- Some of the client’s cells have 47 chromosomes.
- All the client’s cells have 48 chromosomes.
- The client’s somatic cells have 23 chromosomes.
- The client’s sex cells have 25 chromosomes.
Correct Answer: 1,2
Rationale 1: In mosaicism, some cells have the normal number of 46 chromosomes.
Rationale 2: In mosaicism, some cells have an additional chromosome.
Rationale 3: In a mosaic pattern, some cells have 46 chromosomes and some have 47.
Rationale 4: The only cells with 23 chromosomes are normal sex cells.
Rationale 5: Mosaic patterns do not include sex cells with 25 chromosomes.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Assessment
Learning Outcome: 6-3: Describe and define chromosomal mosaicism.
Question 7
Type: MCMA
Which statements would the nurse educator evaluate as indicating a student’s need for additional instruction on trisomic rescue?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- “Trisomic rescue occurs when the extra chromosome is isolated and lost.”
- “The effect of trisomic rescue depends on when it occurs.”
- “In somatic cells it is best for trisomic rescue to take place later rather than earlier.”
- “In sex cells it is best for trisomic rescue to take place sooner rather than later.”
- “Trisomic rescue can be induced through ionizing radiation.”
Correct Answer: 1,2,4
Rationale 1: If the extra chromosome is not included in formation of a new cell and is isolated and lost, the result is a cell with the normal 46 chromosomes.
Rationale 2: How early or late trisomic rescue takes place determines the outcome.
Rationale 3: If trisomic rescue occurs early, the abnormal chromosomal content will be decreased.
Rationale 4: If trisomic rescue occurs early, the abnormal chromosomal content will be decreased.
Rationale 5: There is no known way to induce trisomic rescue.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Evaluation
Learning Outcome: 6-2: Discuss the theoretical concepts of the development of mosaicism.
Question 8
Type: MCMA
What information would the nurse educator include when explaining how mosaicism occurs?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- Generalized mosaicism is more likely if the nondisjunction mistake happens in the first one or two divisions of the fertilized egg.
- The type of cells involved in mosaicism is critical to the effects it will cause.
- The effects of mosaicism are reduced if trisomic cells do not survive.
- Earlier diagnosis of mosaicism will reduce the somatic effects.
- Mosaicism affects cells only during meiotic division.
Correct Answer: 1,2,3
Rationale 1: If the nondisjunction occurs after the egg is fertilized and starting to divide, new cells are produced that will be part of the tissues. This results in a more generalized effect than if only the egg or sperm is involved.
Rationale 2: If the involved cells are critical to the function of an organ or tissue, the effects will be greater.
Rationale 3: The effects of mosaicism are related to the trisomic state of cells. If these cells die, there is no effect.
Rationale 4: There is currently nothing that can be done to “fix” the cells once they are affected. Diagnosis is often achieved only after the fetus is in the late first or second trimester or after the baby is born.
Rationale 5: Cells can become mosaic in both meiosis and mitosis.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 6-4: Explain the ways mosaicism can occur.
Question 9
Type: MCSA
A client’s chorionic villus sampling (CVS) reveals the presence of trisomy. How would the nurse interpret this test result?
- Nondisjunction has not occurred.
- The fetus’s organ systems are involved.
- There is trisomy in the placenta.
- There is trisomy in at least one fetal tissue.
Correct Answer: 3
Rationale 1: Nondisjunction is the primary reason for mosaicism.
Rationale 2: It is not possible to determine if all organ systems are involved.
Rationale 3: Chorionic villus sampling can indicate trisomy only in the placenta.
Rationale 4: Amniocentesis is required to make this determination.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Evaluation
Learning Outcome: 6-4: Explain the ways mosaicism can occur.
Question 10
Type: MCMA
Genetic testing of a placenta reveals mosaicism. What are the implications for the fetus?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- The fetus must also have mosaicism.
- There should be no effects on the fetus.
- Stillbirth is more common.
- Fetal growth may be retarded.
- The fetus will spontaneously abort prior to the 20th gestational week.
Correct Answer: 3,4
Rationale 1: In situations of confined placental mosaicism, the fetus is euploid.
Rationale 2: There may or may not be effects on the fetus.
Rationale 3: Stillbirth is more common in instances of placental mosaicism.
Rationale 4: Retardation of fetal growth can occur with placental mosaicism.
Rationale 5: Spontaneous abortion may occur, but these pregnancies do carry to term.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Evaluation
Learning Outcome: 6-5: Review the implications of mosaicism in pregnancy.
Question 11
Type: MCSA
A client’s chorionic villus sampling (CVS) reveals mosaicism, but amniocentesis does not. How should the nurse evaluate these results?
- An error in analyzing the results must have occurred because these two events cannot exist simultaneously.
- The client has a condition called anaphase lag.
- The client has a condition called confined placental mosaicism (CPM).
- Mosaicism is present in the fetus, but not in the placenta.
Correct Answer: 3
Rationale 1: These two results are compatible.
Rationale 2: Anaphase lag is a mechanism for trisomy formation but is not identified in these results.
Rationale 3: The presence of mosaicism in the placenta but not in fetal tissues signifies CPM.
Rationale 4: CVS testing reveals the presence of mosaicism in the placenta. The absence of mosaicism in the amniotic fluid indicates that no fetal tissues are mosaic.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Evaluation
Learning Outcome: 6-4: Explain the ways mosaicism can occur.
Question 12
Type: MCSA
The parents of a child who is mosaic for trisomy 21 ask if there is a way to identify the proportion of their child’s cells that are affected. What is the nurse’s best answer?
- “There are several simple tests to determine the proportion of mosaic cells.”
- “The only reliable test is very expensive.”
- “Testing can be done in Europe, but not in the United States.”
- “Reliable testing can only be done on autopsy.”
Correct Answer: 4
Rationale 1: No simple test exists.
Rationale 2: There is no reliable test.
Rationale 3: No test exists in Europe.
Rationale 4: The exact proportion of affected to normal cells can be determined only on autopsy.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 6-5: Review the implications of mosaicism in pregnancy.
Question 13
Type: MCMA
A couple has experienced three spontaneous abortions (SABs) before week 9 of gestation and one SAB at week 20. What should the nurse consider when preparing to counsel this couple?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- The earlier the SAB, the more likely a rare genetic defect.
- Most SABs are related to genetic changes.
- Later-gestation SABs are more likely than early-gestation SABs to reflect genetic disorders that are seen in live newborns.
- If a genetic defect was present in the first SAB, it is more likely to be present in subsequent SABs.
- Trisomies, monosomy X, and polyploidy make up the majority of genetic abnormalities associated with SAB.
Correct Answer: 1,2,3,4,5
Rationale 1: The proportion of abnormal karyotypes in abortus specimens is highest earlier in gestation, with more unusual aneuploidies noted during that stage.
Rationale 2: It is estimated that genetic changes are responsible for 50% to 70 % of SABs.
Rationale 3: Late-gestation SAB genetic disorders are comparable to those seen in live newborns, indicating that the disorder is more survivable than those that occur in early gestation.
Rationale 4: A higher rate of aneuploidy has been reported in subsequent losses when the karyotype was abnormal in the first loss.
Rationale 5: The most common abnormalities are autosomal trisomies (particularly trisomy 16), monosomy X, and polyploidy.
Global Rationale:
Cognitive Level: Applying
Client Need: Psychosocial Integrity
Client Need Sub:
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 6-5: Review the implications of mosaicism in pregnancy.
Question 14
Type: MCMA
A woman has just experienced a spontaneous abortion. Which information would the nurse analyze before counseling the client?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- What was the fetal gestational age?
- Are malformations present?
- What is the father’s ethnicity?
- What is the mother’s age?
- Is the fetus small for gestational age?
Correct Answer: 1,2,4,5
Rationale 1: Gestational age is important information. The earlier the fetus aborts, the more likely a genetic disorder is a factor.
Rationale 2: The presence of malformations can give the nurse clues to the presence of a genetic disorder.
Rationale 3: Paternal ethnicity is not a risk factor for spontaneous abortion.
Rationale 4: The older the mother, the more likely genetic problems such as nondisjunction will occur.
Rationale 5: Intrauterine growth retardation occurs with many genetic disorders.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 6-5: Review the implications of mosaicism in pregnancy.
Question 15
Type: MCSA
A female nurse tells a genetics clinical nurse (GCN) that she would like to get pregnant, but that she has heard that nurses are at risk for having infants with environmentally induced genetic disorders. According to the research, how should the specialist reply?
- “There was some concern about this some time ago, but it has all been disproven.”
- “The area of highest concern is the neurological intensive care unit.”
- “You should be more concerned about eating a healthy diet and avoiding alcohol.”
- “Studies have shown a higher risk in nurses who work in the operating room or emergency department.”
Correct Answer: 4
Rationale 1: Research does show an elevated risk of congenital anomalies associated with working in some areas of the hospital.
Rationale 2: The neurological ICU is not the area of highest concern.
Rationale 3: This statement may be true, but it does not address the nurse’s concerns.
Rationale 4: The two areas associated with the highest risk of congenital anomalies are the operating room and emergency department, with an increase of 7.9%.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 6-5: Review the implications of mosaicism in pregnancy.
Kenner Genetics and Genomics for Nursing, 1/E
Chapter 7
Question 1
Type: MCSA
A client being treated for cancer is offended because she overheard a nurse say that the client had “wild-type genes.” How should the nurse respond to calm this client?
- “Wild-type genes are a type of gene that is stronger than normal.”
- “The nurse was describing your resilience in fighting your illness so effectively.”
- “The nurse was discussing a type of gene we are seeing in clients treated for cancer.”
- “Wild-type genes are those that are normal and have not been affected by any mutation.”
Correct Answer: 4
Rationale 1: Wild-type genes are not stronger-than-normal genes.
Rationale 2: The term wild-type genes does not refer to resilience.
Rationale 3: Wild-type genes are not caused by cancer treatments.
Rationale 4: Wild-type genes are those found in the common phenotype of a population.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 7-1: Describe Mendelian patterns of inheritance that contribute to inherited disorders.
Question 2
Type: MCMA
A client is diagnosed with a single-gene disorder on a non–sex chromosome. How would the nurse describe this disorder?
Standard Text: Select all that apply.
- X-linked
- Y-linked
- Monogenic
- Dominant
- Autosomal
Correct Answer: 3,5
Rationale 1: X-linked disorders are associated with a sex chromosome.
Rationale 2: Y-linked disorders are associated with a sex chromosome.
Rationale 3: A single-gene disorder arises from a single defective gene; hence the term monogenic.
Rationale 4: The disorder may or may not be dominant.
Rationale 5: If the defective gene is not on a sex chromosome, it is termed autosomal.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 7-1: Describe Mendelian patterns of inheritance that contribute to inherited disorders.
Question 3
Type: MCMA
A client has been diagnosed with an autosomal recessive disorder that developed in middle adulthood. No other people in his family have manifested the disorder. The client asks the nurse why he is affected and if his children are at risk. What would the nurse consider when formulating a reply?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- The client’s mother is a carrier of the disorder.
- The odds are high that at least one of the client’s four younger siblings either is a carrier for the disease or will develop it in later life.
- The client’s father is a carrier for the disorder.
- Because the disorder is recessive, the client’s children have a 25% chance of having inherited it.
- All of the client’s children are at least carriers of the disorder.
Correct Answer: 1,2,3,5
Rationale 1: For the client to inherit an autosomal recessive disorder, his mother must have the disorder or be a carrier for it.
Rationale 2: Each sibling has a 50% chance of being a carrier and a 25% chance of developing the disease.
Rationale 3: For the client to inherit an autosomal recessive disorder, his father must have the disorder or be a carrier for it.
Rationale 4: The client’s children have a 50% chance of being affected.
Rationale 5: As this client has manifested the disorder, it is clear he inherited two recessive genes. The father must contribute one gene to each child, so it must be a recessive gene, making the children carriers. If the children’s mother also has the disorder or is a carrier, the children’s chances of developing the disorder are higher.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 7-2: Describe the major characteristics of single gene Mendelian autosomal recessive disorders.
Question 4
Type: MCSA
The mother of a client with cystic fibrosis (CF) says, “I don’t understand why my son is sick so often when some of the other children in our CF support group are hardly ever sick.” How should the nurse respond?
- “We should probably test your son’s immune system.”
- “There are many different type of CF, and they affect different people differently.”
- “Are you certain you have been following his medication schedule exactly?”
- “Children have different levels of disease because they have differing amounts of dysfunction in the gene that causes CF.”
Correct Answer: 4
Rationale 1: If the frequency of illness is the only assessment finding, it is not necessary to test the child’s immune system.
Rationale 2: This statement is not factual and does not explain the difference in the son’s illness.
Rationale 3: The nurse should not imply that the son’s frequent illnesses are the mother’s fault.
Rationale 4: The greater the alteration in the CFTR gene, the more severe the symptoms associated with CF.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 7-2: Describe the major characteristics of single gene Mendelian autosomal recessive disorders.
Question 5
Type: MCSA
A client has been diagnosed with a rare autosomal recessive disorder. Which finding is the nurse most likely to assess in the client’s pedigree?
- Deaths from other autosomal recessive disorders
- Many families units with only one child
- Marriages between first cousins
- An unusual number of adopted children
Correct Answer: 3
Rationale 1: This disease could be the only autosomal recessive disorder in the family.
Rationale 2: There is no reason to believe that the presence of an autosomal recessive disorder would limit the number of children born in a family.
Rationale 3: Consanguinity narrows the gene pool in a family and results in more cases in which two persons with an autosomal recessive disease have children together.
Rationale 4: The number of adopted children and the presence of an autosomal recessive disorder have no effect on each other.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Assessment
Learning Outcome: 7-2: Describe the major characteristics of single gene Mendelian autosomal recessive disorders.
Question 6
Type: MCSA
The evaluation of a family pedigree reveals numerous cases of an autosomal dominant disorder. The client does not have the disorder. What does the nurse teach the client about her children’s chances of having the disorder?
- “Your children have a 50% chance of developing the disorder.”
- “If your children’s father does not have the disease, they will not have the disease.”
- “Your children cannot develop the disease.”
- “These disorders tend to skip a generation, so there is a good chance your children will develop it.”
Correct Answer: 2
Rationale 1: This is not true of autosomal dominant disorders.
Rationale 2: This is the best way to explain the chances of the children having the disease. The mother cannot pass it to them, but if the children’s father has the disorder, they could develop it.
Rationale 3: If the children’s father has the disorder, there is a 50% chance they will develop it.
Rationale 4: Autosomal dominant disorders do not “skip a generation.”
Rationale 5:
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 7-3: Describe the major characteristics of single gene Mendelian autosomal dominant disorders.
Question 7
Type: MCSA
A client is diagnosed with a disorder that has an autosomal dominant inheritance pattern. A review of the client’s family history and pedigree does not reveal any ancestors with the disorder. How should the nurse interpret this finding?
- Errors have been made in the documentation of the client’s history.
- Some ancestors experienced effects that were so minor they were not recognized.
- A de novo mutation has occurred.
- The client’s genetic testing should be repeated.
Correct Answer: 3
Rationale 1: The client’s history could be accurate.
Rationale 2: This could be correct, but it is not the likeliest reason for the finding.
Rationale 3: A de novo mutation is a new, spontaneous mutation that then appears in succeeding generations.
Rationale 4: The scenario is consistent with basic Mendelian inheritance patterns. There is no reason to repeat testing.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Assessment
Learning Outcome: 7-3: Describe the major characteristics of single gene Mendelian autosomal dominant disorders.
Question 8
Type: FIB
A woman who is a carrier of an X-linked recessive genetic disorder has a child with a man who is not affected by the disorder. The chance that a son born to this couple will have the disease is ________ percent.
Standard Text:
Correct Answer: 50
Rationale : A woman who is a carrier of an X-linked recessive disease has one mutated X chromosome. If this woman has a son with a man who is not affected, the man will contribute a wild-type Y chromosome. The child has a 50% chance of inheriting a mutated X chromosome from the mother.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Assessment
Learning Outcome: 7-4: Describe the major characteristics of single gene X-linked recessive and dominant disorders.
Question 9
Type: MCMA
A nurse is providing preconception counseling to a healthy woman and her husband, who has hemophilia A. They are very concerned about passing the disorder on to their children. What should the nurse consider before addressing this concern?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- Hemophilia A is diagnosed in men and women in equal numbers.
- The daughters produced by this union will be carriers of the disorder.
- The sons of this union will have hemophilia A.
- The daughters of this union will have a 50% chance of passing hemophilia A on to their daughters.
- None of the children of this union will manifest hemophilia A.
Correct Answer: 2,5
Rationale 1: Hemophilia A is diagnosed almost exclusively in men.
Rationale 2: The father will contribute his lone X chromosome to his daughters. Because hemophilia is an X-linked disorder, that X must be affected. Daughters will be carriers of the disease.
Rationale 3: Hemophilia A is an X-linked disorder. The father contributes a Y chromosome to his sons, so there is no direct transfer of the disorder.
Rationale 4: The daughters of this union will have a 50% chance of passing this disorder to their sons.
Rationale 5: Hemophilia affects males. The father cannot pass his affected X chromosome to sons, so they will not be affected.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 7-4: Describe the major characteristics of single gene X-linked recessive and dominant disorders.
Question 10
Type: MCSA
A man who has a Y-linked disorder has married a healthy woman. The couple is concerned about passing the man’s disorder to their children. What should the nurse consider before responding to this concern?
- Only the female children will be affected.
- Female fetuses with this genotype do not survive to birth.
- Only male children will be affected.
- The chance the father will pass the disease on to male children is 1 in 2.
Correct Answer: 3
Rationale 1: Females cannot be affected because the disorder requires a Y chromosome.
Rationale 2: The female fetus cannot have this genotype as it requires a Y chromosome.
Rationale 3: Because the disorder is Y-linked, only males are affected.
Rationale 4: The father has only one Y chromosome to contribute, so the affected chromosome will be passed to each son.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 7-4: Describe the major characteristics of single gene X-linked recessive and dominant disorders.
Question 11
Type: MCSA
A male infant is diagnosed with a disorder of mitochondrial inheritance. What should the nurse consider when developing a teaching plan about this disorder for the parents?
- This disorder will affect the baby’s immunity.
- It is very rare for a male child to be affected.
- The child inherited this disorder from the mother.
- This baby will likely not live past a few weeks.
Correct Answer: 3
Rationale 1: Mitochondrial disorders affect the energy production of the cells.
Rationale 2: Males and females are affected in equal numbers.
Rationale 3: Inheritance is through the maternal line.
Rationale 4: Expression of these disorders is variable. There is no indication of how affected this child is or how long he may live.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Planning
Learning Outcome: 7-5: Identify nontraditional Mendelian disorders such as mitochondrial disorders, genomic imprinting, unipaternal disomy, and unstable triplet repeat mutations.
Question 12
Type: MCMA
A teenager is diagnosed with a disorder of mitochondrial inheritance. What assessment findings would the nurse expect to find in this client’s history?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- Hearing loss
- Loss of ability to taste
- Frequent nosebleeds
- Exercise intolerance
- Generalized fatigue
Correct Answer: 1,4,5
Rationale 1: Unexplained hearing loss is a finding associated with mitochondrial disorders.
Rationale 2: Taste disturbances are not associated with mitochondrial disorders.
Rationale 3: Frequent nosebleeds are not associated with mitochondrial disorders.
Rationale 4: Mitochondrial disorders affect energy supply.
Rationale 5: Mitochondrial disorders affect energy supply.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Assessment
Learning Outcome: 7-5: Identify nontraditional Mendelian disorders such as mitochondrial disorders, genomic imprinting, unipaternal disomy, and unstable triplet repeat mutations.
Question 13
Type: MCMA
A child has been diagnosed with Fragile X syndrome. The nurse would explain that this child is at risk for which other disorders?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- Autism
- Hyperactivity
- Mitral valve prolapse
- Learning disabilities
- Huntington disease
Correct Answer: 1,2,3,4
Rationale 1: Fragile X syndrome is associated with autism.
Rationale 2: Fragile X syndrome is associated with hyperactivity.
Rationale 3: The connective tissue weakness common in Fragile X syndrome puts the client at risk for mitral valve prolapse.
Rationale 4: Fragile X syndrome is the most common hereditary disorder associated with mental retardation.
Rationale 5: The gene alterations that cause Fragile X are not associated with Huntington disease.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Implementation
Learning Outcome: 7-5: Identify nontraditional Mendelian disorders such as mitochondrial disorders, genomic imprinting, unipaternal disomy, and unstable triplet repeat mutations.
Question 14
Type: MCSA
The nurse is reviewing an obstetric client’s history and physical assessment. Which finding is most likely to alert the nurse to the possibility of a genetic disorder in the infant?
- Family history of genetic disorders
- Infant’s large size for gestational age
- Low serum glucose in mother on initial screening
- History of smoking in mother and father
Correct Answer: 1
Rationale 1: Of all the diagnostic tools used by health care providers, the family history is most indicative of a potential genetic disorder.
Rationale 2: Being large for gestational age may be associated with any number of diseases that are not genetic in nature.
Rationale 3: Low serum glucose is a common finding and would not alert the nurse to a possible genetic disorder.
Rationale 4: Smoking during pregnancy may adversely affect the fetus but is unlikely to cause genetic disorders.
Global Rationale:
Cognitive Level: Applying
Client Need: Physiological Integrity
Client Need Sub: Physiological Adaptation
Nursing/Integrated Concepts: Nursing Process: Assessment
Learning Outcome: 7-6: Describe the role of nurses and other health care professionals in providing information about Mendelian disease to patients and families.
Question 15
Type: MCMA
A couple has delivered an infant with a serious genetic disorder. Which nursing diagnoses would likely apply to this family?
Note: Credit will be given only if all correct choices and no incorrect choices are selected.
Standard Text: Select all that apply.
- Altered Family Processes
- Anticipatory Grieving
- Anxiety
- Ineffective Denial
- Ineffective Management: Therapeutic Family Regimen
Correct Answer: 1,2,3,4
Rationale 1: The normal rhythms of this family have been disrupted.
Rationale 2: The family will grieve for the loss of a normal child.
Rationale 3: The time of the first diagnosis will be a time of great anxiety.
Rationale 4: Denial is a common coping mechanism for parents who have just been told their child has a disability.
Rationale 5: The family is more likely to be very attuned to prescribed therapies, especially at the time of initial diagnosis.
Global Rationale:
Cognitive Level: Analyzing
Client Need: Psychosocial Integrity
Client Need Sub:
Nursing/Integrated Concepts: Nursing Process: Diagnosis
Learning Outcome: 7-6: Describe the role of nurses and other health care professionals in providing information about Mendelian disease to patients and families.
