Question 1

A person tells the nurse that her husband has chronic myelogenous leukaemia and is concerned that any of their children will inherit the same genetic disorder. Which of the following is an appropriate nursing response?

Accepted Answer

Chronic Myelogenous Leukemia (CML) is primarily caused by an acquired genetic abnormality, the Philadelphia chromosome, not by inherited genetic traits. Therefore, it is not passed from parents to children.

Question 2

The doctor has ordered chromosomal analysis for a newborn baby. Which of the following tests has been ordered?

Accepted Answer

Chromosomal analysis refers to a karyotype, which involves examining the chromosomes of cells to identify any abnormalities or genetic disorders. A genotype refers to the specific genetic makeup of an individual, while a newborn screen is a screening test for metabolic disorders. A phenotype refers to the physical traits and characteristics of an individual.

Question 3

A couple have a son who has haemophilia A. They are concerned about any future children they might have. What is the likelihood that they would have another son who also has haemophilia A?

Accepted Answer

The likelihood of the couple having another son with haemophilia A is 50%. This is because haemophilia A is an X-linked recessive disorder, meaning that it is caused by a mutation in a gene on the X chromosome. Since males only have one X chromosome (inherited from their mother), if the mother is a carrier of the gene mutation, each son has a 50% chance of inheriting the mutated gene and thus having haemophilia A. However, each daughter would have a 50% chance of being a carrier (inheriting one mutated X chromosome from the mother) and a 50% chance of not carrying the mutation (inheriting an unaffected X chromosome from the father), as females have two X chromosomes (inherited from both parents).

Question 4

A person tells the nurse that her teenage son, who has a congenital abnormality, is demonstrating increasing anger and animosity toward her and her husband. The son is manifesting which of the following? He is:

Accepted Answer

The teenage son with a congenital abnormality is demonstrating increasing anger and animosity towards his parents, which suggests that he is fostering resentment towards them. It is possible that he may be experiencing frustration or difficulty coping with his condition, leading to his behavior towards his parents. It is important for the nurse to further assess the situation and provide necessary support and resources. Option A is incorrect as confusion is not mentioned in the scenario, while option C is incorrect as there is no mention of specific clinical manifestations of the congenital abnormality. Option D may be a possibility, but more assessment is needed before making that conclusion.

Question 5

A 42-year-old pregnant woman asks the nurse if her baby will be born with Down syndrome. The nurse realises that a baby with this chromosomal abnormality would have which of the following?

Accepted Answer

Down syndrome is caused by the presence of an extra copy of chromosome 21, resulting in a total of 47 chromosomes instead of the normal 46.

Question 6

A mother who has given birth to a baby with Down syndrome is demonstrating anxiety and guilt. Which statement made by the mother supports this diagnosis?

Accepted Answer

The answer of A mother who has given birth to...

Question 7

Which of the following conditions results from an autosomal pattern of inheritance?

Accepted Answer

The answer of Which of the following conditions results from...

Question 8

Both individuals of a couple are heterozygous for an autosomal trait or condition. What is the likelihood that they would have an affected child?

Accepted Answer

When both parents are heterozygous for an autosomal trait, the Mendelian inheritance pattern predicts that there is a 25% chance for each child to be homozygous recessive (affected), based on the Punnett square analysis.

Question 9

A person is upset to hear the nurse say that the results of genetic testing revealed 'wild-type' genes. What are 'wild-type' genes?

Accepted Answer

'Wild-type' genes refer to the normal, non-mutated version of a gene. Therefore, the person should not be upset by the nurse's statement, as it indicates that there are no identified genetic mutations.

Question 10

A 43-year-old pregnant woman asks the nurse how to find out if the baby will be born with Down syndrome. Which statement made by the nurse would be an appropriate response?

Accepted Answer

Down syndrome is caused by an extra copy of chromosome 21, which results in 47 chromosomes instead of the usual 46. Therefore, option A is the correct answer. Option B is incorrect because all humans have 23 pairs of chromosomes, and Down syndrome does not affect the number of pairs. Option C is incorrect because a missing chromosome is associated with a different condition called Turner syndrome. Option D is incorrect because Down syndrome does not involve a sex chromosome abnormality.

Question 11

A couple have a son who has haemophilia A. They are concerned about any future children they might have. What is the likelihood that they would have a daughter who also has haemophilia A?

Accepted Answer

Haemophilia A is an X-linked recessive disorder. For a daughter to have haemophilia A, she must inherit the affected X chromosome from both parents. Since the father cannot pass an affected X chromosome to his daughter (he passes his Y chromosome instead), it is impossible for them to have a daughter with haemophilia A under normal circumstances.

Question 12

On completion of genetic testing, a person is happy to learn that she has a negative test result. What does this person need to understand?

Accepted Answer

A negative test result means that no mutations or genetic abnormalities were detected at the time of testing, but it does not guarantee that the person will never develop a genetically caused disease in the future. Other factors, such as environmental factors, can also contribute to the development of a disease.

Question 13

A person has a history of a genetic disorder and is concerned that this same disorder will be passed to his children. What information should the nurse provide to this person?

Accepted Answer

The answer of A person has a history of a...

Question 14

What is the pattern of inheritance of haemophilia A?

Accepted Answer

Haemophilia A is inherited in an X-linked recessive pattern, where the mutation is present on the X chromosome. Females have two X chromosomes, and males have one X chromosome and one Y chromosome. Therefore, males are much more likely to develop haemophilia A as they have only one copy of the X chromosome, and if the X chromosome carries the mutation, they will have the condition. Females can be carriers of the condition, but they are usually not affected as they have a functional copy of the X chromosome.

Question 15

A 40-year-old person tells the nurse that her mother has Alzheimer's disease (AD). The person asks if she will get this disease. What would be the nurse's best response?

Accepted Answer

There is an increased risk of developing AD if there is a family history of the disease. The nurse should provide accurate and evidence-based information and not make false reassurances. Therefore, option A is the best response. Option B is incorrect because it is not a guarantee that the person's children will inherit AD. Option C is incorrect because having a family history of AD increases the risk of developing the disease. Option D is incorrect because the nurse cannot predict the precise chance of developing AD.

Question 16

A mother who has given birth to a baby with Down syndrome refuses to allow any family members to visit her or the newborn. What is the person demonstrating?

Accepted Answer

The answer of A mother who has given birth to...

Question 17

A baby is born with a genetic disorder that did not affect either of the parents. Which of the following is true?

Accepted Answer

The disorder could be recessive, meaning both parents are carriers but do not show symptoms.

Question 18

At the conclusion of a genetic counselling session, a family member says to the nurse, 'There's got to be something that you aren't telling us.' Which of the following might be the reason for this statement by the individual? The individual is:

Accepted Answer

This statement could indicate discomfort with the non-directive approach often used in genetic counseling, where counselors provide information and support but do not direct clients towards specific decisions. This approach can sometimes leave individuals feeling uncertain or like they are not getting all the answers they want.

Question 19

A baby is born with a genetic disorder. Neither parent has a history of this disorder. The nurse realises that the cause of this disorder could be which of the following?

Accepted Answer

The fact that neither parent has a history of the disorder and the baby was born with it suggests that it was a spontaneous new mutation, which can occur at random during gamete formation or early development of the embryo.

Question 20

Which of the following is true about Down syndrome?

Accepted Answer

The risk of having a child with Down syndrome increases with increasing maternal age. The risk is highest in women who conceive at age 35 or older.

Answer: C
 Paternal age does not have a significant effect on the risk of Down syndrome.

Answer: D
 This statement is not true. Down syndrome does not inevitably result in miscarriage in early pregnancy. In fact, many pregnancies affected by Down syndrome progress to full term.

Answer: B
 This statement is not true. Down syndrome does not cause a severe clotting defect. However, individuals with Down syndrome may be more prone to certain health conditions, such as heart defects and respiratory infections.

Quiz 7: Genetic Implications of Adult Health Nursing