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In this role, the nurse will aim to help individuals and families understand which of the following?
- A. How genetic and psychological factors influence coping
- B. How genomic and physical factors influence longevity
- C. How genetic and environmental factors influence health and disease
- D. How physical factors influence genetics and wellness
Correct Answer: C
Rationale: Nurses help individuals and families learn how genetic traits and conditions are passed on within families as well as how genetic and environmental factors influence health and disease. This is the primary focus of genetics nursing, not coping, longevity, or physical factors influencing genetics.
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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.
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.
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.
For what health problem would this couple be genetically screened?
- A. Huntington disease
- B. Trisomy 21
- C. Alzheimers disease
- D. Canavan disease
Correct Answer: D
Rationale: People of Ashkenazi Jewish descent are screened for conditions such as Tay-Sachs disease and Canavan disease due to higher prevalence in this population. The other conditions are not specifically associated with this group.
Which of the following is the most important factor documented in the patients genetic history?
- A. Three generations of information about the family
- B. Current medications taken
- C. Health problems present in the womans children
- D. Immunizations received for the past three generations
Correct Answer: A
Rationale: A well-documented family history is a tool used by the health care team to make a diagnosis, identify teaching strategies, and establish a pattern of inheritance. The family history should include at least three generations, as well as information about the current and past health status of all family members, including the age of onset of any illnesses and cause of death and age at death. Medications and immunizations are part of the general health history, not specifically the genetic history.