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.
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What factor describes the etiology of this genetic change?
- A. The mother also has genetic mutation of chromosome 21.
- B. The patient has a nondisjunction occurring during meiosis.
- C. During meiosis, a reduction of chromosomes resulted in 23.
- D. The patient will have a single X chromosome and infertility.
Correct Answer: B
Rationale: During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains either two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to trisomy. Down syndrome is an example of trisomy. The mother does not have a mutation of chromosome 21, which is indicated in the question. Also, trisomy does not produce a single X chromosome and infertility.
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.
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.
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 this foundational genetic test?
- A. The developmental assessment
- B. The family history
- C. The physical assessment
- D. The psychosocial assessment
Correct Answer: B
Rationale: The family history is considered the first genetic test. It is expected that all nurses will know how to use this genetic tool to assess potential genetic risks and patterns of inheritance.
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