Nokea
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.
You may also like to solve these questions
What is the chance that this couple will have a child with six toes?
- A. 25%
- B. 50%
- C. 75%
- D. 100%
Correct Answer: A
Rationale: When two carrier parents have children together, they have a 25% chance of having a child who inherits the gene mutation from each parent and who will have the condition, as in autosomal recessive inheritance. The other percentages are incorrect for this inheritance pattern.
Based on this information, what does the nurse suspect?
- A. Huntington disease
- B. Schizophrenia
- C. Cerebrovascular accident
- D. Alzheimers disease
Correct Answer: D
Rationale: Nurses must be alert for family histories indicating that multiple generations are affected with the same condition or that onset of disease is earlier than expected. The patient's symptoms of forgetfulness, jerky movements, and a family history of early-onset memory loss in her mother suggest Alzheimer's disease, which can have a genetic component, especially with early onset. Huntington disease involves more pronounced movement disorders, schizophrenia is less likely given the physical symptoms, and there is no evidence of a cerebrovascular accident.
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.
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.
Based on the nurses knowledge of neurofibromatosis, the nurse understands that a single family member has which of the following?
- A. A spontaneous mutation
- B. A germline mutation
- C. A nondisjunction
- D. A monosomy
Correct Answer: A
Rationale: Spontaneous mutations take place in individual oocytes or sperm at the time of conception. These mutations are not inherited in other family members. However, a person who carries the new spontaneous mutation may pass on the mutation to his or her children. Achondroplasia, Marfan syndrome, and neurofibromatosis type 1 are examples of genetic conditions that may occur in a single family member as a result of spontaneous mutation. Germline mutations are passed on to all daughter cells when body cells replicate. Nondisjunction and monosomy are related to chromosomal abnormalities, not single gene mutations like neurofibromatosis.