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What will the nurse understand about the childrens possibility of inheriting the gene for the disease?
- A. Each child will have a 25% chance of inheriting the disease.
- B. Each child will have a 50% chance of inheriting the disease.
- C. Each child will have a 75% chance of inheriting the disease.
- D. Each child will have no chance of inheriting the disease.
Correct Answer: B
Rationale: Huntington disease is an autosomal dominant disorder. Autosomal dominant inherited conditions affect female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that persons offspring has a 50% chance of inheriting the gene mutation for the condition and a 50% chance of inheriting the normal version of the gene.
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This nurse has consequently completed the first step in what process?
- A. Establishing the pattern of inheritance
- B. Influencing the clients genetic future
- C. Answering the clients genetic questions
- D. Answering the clients relational questions
Correct Answer: A
Rationale: Nursing assessment of the patient's health includes obtaining and recording family history information in the form of a pedigree. This is a first step in establishing the pattern of inheritance. It does not directly answer questions or influence genetic outcomes.
What is an essential component of care for this patient?
- A. Assist the patient in determining signs of neuromuscular weakness
- B. Instruct the man on treatment options for Huntington disease
- C. Teach the man how to avoid passing Huntington disease to his own children
- D. Provide genetic counseling, evaluation, and testing for the disease
Correct Answer: D
Rationale: The provision of genetic counseling, evaluation, and testing for the disease is essential in care, especially given the family history of Huntington disease. This encompasses assessing risks to offspring and addressing symptoms, making it the most comprehensive option.
What should the nurse practitioner tell them about cystic fibrosis?
- A. It is an autosomal dominant disorder.
- B. It is passed by mitochondrial inheritance.
- C. It is an X-linked inherited disorder.
- D. It is an autosomal recessive disorder.
Correct Answer: D
Rationale: Cystic fibrosis is autosomal recessive. People who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive conditions like cystic fibrosis if both are carriers. It is not autosomal dominant, mitochondrial, or X-linked.
What should the nurse do?
- A. Call the patients brother and inform him of his risk for development of Alzheimers disease.
- B. Notify the geneticist and have him instruct the patient on his siblings and parents risk.
- C. Notify the siblings physicians about the patients risk for development of Alzheimers disease.
- D. Instruct the patient on the importance of notifying the siblings and keep his information confidential.
Correct Answer: D
Rationale: The nurse must honor the patient's wishes while explaining the potential benefit this information may have for other family members. Breaching confidentiality by contacting siblings or their physicians is unethical. Involving a geneticist may be helpful, but the primary action is to respect the patient's confidentiality while encouraging disclosure.
This model for presymptomatic testing is most likely being used to address what disease?
- A. Alzheimers disease
- B. Huntington disease
- C. Tay-Sachs disease
- D. Sickle cell disease
Correct Answer: B
Rationale: Huntington disease has served as the model for presymptomatic testing because the presence of the genetic mutation predicts disease onset and progression. This is not typically the case for Alzheimer's, Tay-Sachs, or sickle cell disease with current testing technologies.