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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.
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What action should a nurse who practices in the area of genetics prioritize?
- A. Teaching families about the different patterns of inheritance
- B. Gathering relevant family and medical history information
- C. Providing advice on termination of pregnancy
- D. Discouraging females from conceiving after the age of 40 years
Correct Answer: B
Rationale: The nurse's role in genetic counseling is to provide information, collect relevant data, offer support, and coordinate resources. Gathering family and medical history is a priority to establish patterns of inheritance and assess risks, unlike the other options, which are either inappropriate or secondary.
When performing an assessment in this care setting, the nurse would focus on what areas of assessment? Select all that apply.
- A. Assessing patients personality strengths and weaknesses
- B. Performing assessments of patients patterns of behavior
- C. Assessing the genetic characteristics of patients blood samples
- D. Gathering family histories and health histories
- E. Performing comprehensive physical assessments
Correct Answer: D,E
Rationale: Nurses obtain genetics information by gathering family and health histories and conducting physical and developmental assessments. Behavior, personality, and blood sample analysis are not typically part of the nurse's role in this context.
The nurse should recognize that this patients health status may be the result of what phenomenon?
- A. X-linked inheritance
- B. Autosomal recessive inheritance
- C. Autosomal dominant inheritance
- D. Multifactorial inheritance
Correct Answer: D
Rationale: Many birth defects and common health conditions, such as heart disease, high blood pressure, cancer, osteoarthritis, and diabetes, occur as a result of interactions of multiple gene mutations and environmental influences. Thus, they are called multifactorial or complex conditions. X-linked, autosomal recessive, and autosomal dominant conditions are caused by single gene mutations, not multiple gene interactions.
Based on this patients history, what recommendation should the nurse make at the present time?
- A. Instruct her to continue to try to get pregnant
- B. Let the patient know that her loss may not occur again
- C. Encourage her explore the possibility of chromosome testing studies
- D. Instruct her to have an amniocentesis with the next pregnancy
Correct Answer: C
Rationale: At the present time, the nurse should inform the woman about chromosome studies. Chromosome studies may be needed at any age, depending on the indication. Two common indications are a suspected diagnosis, such as Down syndrome, and a history of two or more unexplained pregnancy losses, which the woman has described. Instructing her to continue trying to get pregnant is redundant, and amniocentesis is a future consideration, not an immediate recommendation.
What is important for the nurse to explain to the couple?
- A. Retinoblastoma is an autosomal recessive inheritance in which each parent carries the gene mutation.
- B. Retinoblastoma is an X-linked inheritance and all males inherit an X chromosome from their mothers.
- C. Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance and can skip a generation.
- D. Retinoblastoma is a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition.
Correct Answer: C
Rationale: Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance, and the gene appears to skip a generation, thus leading to errors in interpreting family history and in genetic counseling. Autosomal recessive conditions have a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition. X-linked conditions may be inherited in recessive or dominant patterns, but retinoblastoma is not X-linked.