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.
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What will the nurse understand about the childrens possibility of inheriting the gene for the disease?
- A. Each child will have a 25% chance of inheriting the disease.
- B. Each child will have a 50% chance of inheriting the disease.
- C. Each child will have a 75% chance of inheriting the disease.
- D. Each child will have no chance of inheriting the disease.
Correct Answer: B
Rationale: Huntington disease is an autosomal dominant disorder. Autosomal dominant inherited conditions affect female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that persons offspring has a 50% chance of inheriting the gene mutation for the condition and a 50% chance of inheriting the normal version of the gene.
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 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.
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.
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.
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