ATI LPN
Brunner & Suddarth's Textbook of Medical-Surgical Nursing 14e (Hinkle 2017)
Chapter 8 : Overview of Genetics and Genomics in Nursing Questions
Question 1 of 5
What factor describes the etiology of this genetic change?
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.
Question 2 of 5
The nurse knows that with this gene mutation, the patient will experience symptoms of what?
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.
Question 3 of 5
Based on the nurses knowledge of neurofibromatosis, the nurse understands that a single family member has which of the following?
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.
Question 4 of 5
What will the nurse understand about the childrens possibility of inheriting the gene for 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.
Question 5 of 5
What is important for the nurse to explain to the couple?
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.