Nokea
What would the nurse know about these two diseases?
- A. They are multifactorial.
- B. They are direct result of the patients lifestyle.
- C. They are caused by a single gene.
- D. They do not have a genetic basis.
Correct Answer: A
Rationale: Genomic or multifactorial influences involve interactions among several genes and between genes and the environment, as well as the individual's lifestyle. Heart disease and osteoarthritis are multifactorial, not caused by a single gene or solely lifestyle, and they do have a genetic basis.
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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.
On what does the nurse explain their chances of developing breast cancer depend?
- A. Sensitivity
- B. Conductivity
- C. Penetrance
- D. Susceptibility
Correct Answer: C
Rationale: A woman who has the BRCA1 hereditary breast cancer gene mutation has a lifetime risk of breast cancer that can be as high as 80%, not 100%. This quality, known as incomplete penetrance, indicates the probability that a given gene will produce disease. Sensitivity, conductivity, and susceptibility are not relevant terms in this context.
When planning this couples follow-up counseling, the nurse should recognize what implication of this assessment finding?
- A. There is a 25% chance that a child of the couple would have sickle cell disease.
- B. The man and woman each have an increased risk of developing sickle cell disease later in life.
- C. There is 50% risk of sickle cell disease for each of the couples children.
- D. Their childrens risk of sickle cell disease will depend on a combination of genetics and lifestyle factors.
Correct Answer: A
Rationale: Sickle cell anemia follows an autosomal recessive pattern of inheritance. When carriers have children together, there is a 25% chance that each child may inherit the gene mutation from both parents and have the condition. Carriers do not develop the disease, and lifestyle factors do not directly influence this mendelian inheritance pattern.
The nurse knows that with this gene mutation, the patient will experience symptoms of what?
- A. Peripheral and pulmonary edema
- B. Thrombotic organ damage
- C. Metastasis of a glioblastoma
- D. Amyotrophic lateral sclerosis
Correct Answer: B
Rationale: Sickle cell anemia is an example of a genetic condition caused by a small gene mutation that affects protein structure, producing hemoglobin S. A person who inherits two copies of the hemoglobin S gene mutation has sickle cell anemia and experiences the symptoms of severe anemia and thrombotic organ damage resulting in hypoxia. Amyotrophic lateral sclerosis is a neurodegenerative disease that can occur as a result of an inherited mutation, but not a mutation of hemoglobin S. The patient with sickle cell anemia may experience edema, but it would not be related to the gene mutation.
To explain this concept adequately, the nurse must understand which of the following?
- A. That personalized medicine is, by definition, holistic
- B. That collaboration is essential in genomic medicine
- C. The ethical basis for genomic medicine
- D. The new technologies and treatments of genetic- and genomic-based health care
Correct Answer: D
Rationale: To meet the challenges of personalized medicine, nurses must understand the new technologies and treatments of genetic- and genomic-based health care. This knowledge is critical for explaining personalized medicine, which tailors treatments based on genetic information, beyond just ethics or collaboration.