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The parents of a child with brachydactyly ask if their next child will also be affected. Which of the following is the basis for the nurses' response related to autosomal dominant disorders?
- A. There is a 25% chance that the child will be affected.
- B. All male offspring are affected.
- C. There is a 50% chance that the child will be affected.
- D. All female offspring will be affected.
Correct Answer: C
Rationale: Brachydactyly is an autosomal dominant disorder, meaning that there is a 50% chance that offspring will be affected. It happens equally in males and females.
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A newly pregnant woman asks the nurse what the best time is for chorionic villus sampling? Which of the following time frames is the basis for the nurse's response?
- A. 8-10 weeks
- B. 11-12 weeks
- C. 15-16 weeks
- D. 19-20 weeks
Correct Answer: B
Rationale: Chorionic villus sampling (CVS) is done in the first trimester, usually between 11 and 12 weeks gestation.
Which of the following terms describe the process by which the codon sequence is converted to amino acids?
- A. Transcription
- B. Mutation
- C. Translation
- D. Processing
Correct Answer: C
Rationale: After transcription is complete, translation occurs. Translation is the process through which the codon sequence is converted into amino acids.
A pregnant patient with a family history of cystic fibrosis (CF) asks the emergency department nurse for information about genetic testing. Which of the following actions is most appropriate for the nurse to take?
- A. Refer the patient to a qualified genetic counsellor.
- B. Ask the patient why genetic testing is important to her.
- C. Remind the patient that genetic testing has many social implications.
- D. Tell the patient that cystic fibrosis is an autosomal-recessive disorder.
Correct Answer: A
Rationale: Although the nurse should understand basic genetics, the emergency department is often not the ideal environment for genetic counselling. A genetic nurse or counsellor is best qualified to address the multiple issues involved in genetic testing for a patient who is considering having children. Although genetic testing does have social implications, a pregnant patient will be better served by a genetic counsellor who will have more expertise in this area. CF is an autosomal-recessive disorder, but the patient might not understand the implications of this statement. Asking why the patient feels genetic testing is important may imply to the patient that the nurse is questioning her value system regarding issues such as abortion.
The parents of a child with cystic fibrosis ask if their next child will also be affected. Which of the following is the basis for the nurse's response related to autosomal recessive disorders?
- A. There is a 25% chance that the child will be affected.
- B. All male offspring are affected.
- C. There is a 50% chance that the child will be affected.
- D. All female offspring will be affected.
Correct Answer: A
Rationale: Cystic fibrosis is an autosomal recessive disorder, meaning that there is a 25% chance that offspring will be affected. It happens equally in males and females.
When carrying out pre-symptomatic testing, which of the following diseases has a gene that is 100% penetrant?
- A. Tay-Sachs disease
- B. Fragile X syndrome
- C. Cystic fibrosis
- D. Huntington's disease
Correct Answer: D
Rationale: In pre-symptomatic testing, an individual has genetic testing to determine whether she or he carries a genetic mutation for a genetic disorder. Typically, individuals electing this testing are members of a family that exhibits a genetic disorder. An example of this would be genetic testing for Huntington's disease, an adult-onset condition characterized by progressive neurological degeneration. The gene responsible for Huntington's disease is 100% penetrant, that is, everyone who inherits this mutation will exhibit the disease and, since there is no cure, will die of the disease.