Nokea
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.
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Based on the husbands statement, what nursing diagnosis most likely applies to the wife?
- A. Situational low self-esteem related to reluctance to have genetic testing
- B. Powerlessness related to results of genetic testing
- C. Ineffective health maintenance related to reluctance to have genetic testing
- D. Anxiety related to possible results of genetic testing
Correct Answer: D
Rationale: The husband's statement suggests that the wife is anxious or fearful of obtaining bad news from genetic testing. This aligns with a nursing diagnosis of anxiety, rather than low self-esteem, powerlessness, or ineffective health maintenance, which are less directly supported by the statement.
What is nursings unique contribution to genomic medicine?
- A. Its physical assessment capabilities
- B. Its holistic perspective
- C. Its biopsychologic focus
- D. Its evaluation capabilities
Correct Answer: B
Rationale: The unique contribution of nursing to genomic medicine is its holistic perspective that takes into account each person's intellectual, physical, spiritual, social, cultural, biopsychologic, ethical, and esthetic experiences. This holistic approach is unique compared to other disciplines.
What could the nurse do to disseminate information about screening to more individuals?
- A. Plan a health fair for the employees that provides information about screening for diseases that have an inheritance pattern.
- B. Refer each employee over the age of 50 to a gastroenterologist.
- C. Create a Web site on diet and exercise as it relates to the prevention of colon cancer in people over 50.
- D. Place brochures in the nurses facility for the employees to access in answering their questions.
Correct Answer: A
Rationale: The advantage of a health fair is that it will provide information on all age-related diseases and the prevention of disease, including those with genetic components like colon cancer. Referring all employees over 50 to a gastroenterologist is impractical, and a website or brochures may not reach as many people effectively as a health fair.
What is the nurses best rationale for this?
- A. Genetic screening is a way to determine the rate of infectious disease in babies during this vulnerable time in their lives.
- B. It is important to screen newborns to determine their future cancer risk and appraise the quality of prenatal care they received.
- C. This is a way to assess your infants risk for illnesses called phenylketonuria (PKU), congenital hypothyroidism, and galactosemia.
- D. This testing is required and you will not be able to refuse it. It usually is free so there is no reason to refuse it.
Correct Answer: C
Rationale: The first aim of genetic testing is to improve management, that is, identify people with treatable genetic conditions that could prove dangerous to their health if left untreated. Genetic screening for PKU, congenital hypothyroidism, and galactosemia allows early intervention. It does not assess infectious disease rates or future cancer risk, and while mandatory, the rationale should focus on the health benefits, not just compliance.
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.