Question 1

A child's genetic disorder is attributed to trisomy.How would the nurse explain this concept to the parents?

Accepted Answer

Trisomy occurs when a fertilized egg has 47 chromosomes instead of 46, usually caused by an extra copy of a chromosome. This can happen during the development of the egg and sperm, leading to an extra chromosome being present in the fertilized egg.

Question 2

Which statements would the nurse educator evaluate as indicating a student's need for additional instruction on trisomic rescue?

Accepted Answer

A,B,D

Question 3

The parents of a child who is mosaic for trisomy 21 ask if there is a way to identify the proportion of their child's cells that are affected.What is the nurse's best answer?

Accepted Answer

D

Question 4

Genetic testing of a placenta reveals mosaicism.What are the implications for the fetus?

Accepted Answer

Mosaicism in the placenta can lead to complications such as stillbirth or retarded fetal growth due to the abnormal cell lines affecting placental function.

Question 5

An infant was born with a condition resulting from genetic nondisjunction.What information should the nurse consider when developing a teaching plan for the parents?

Accepted Answer

Nondisjunction is associated with pregnancy in older women because the likelihood of chromosome abnormalities increases with maternal age.

Answer: A 
 This statement is incorrect. Nondisjunction can cause significant chromosomal abnormalities that result in developmental delays, physical abnormalities, and increased risk for certain health conditions.

Answer: C 
 This statement is incorrect. The primary cause of nondisjunction is related to errors in cell division during meiosis.

Answer: D 
 This statement is incorrect. There is currently no cure for genetic nondisjunction, and while gene therapy shows promise in treating some genetic disorders, it is not effective for all conditions resulting from nondisjunction.

Question 6

A couple has experienced three spontaneous abortions (SABs)before week 9 of gestation and one SAB at week 20.What should the nurse consider when preparing to counsel this couple?

Accepted Answer

The answer of A couple has experienced three spontaneous abortions...

Question 7

A client's chorionic villus sampling (CVS)reveals mosaicism,but amniocentesis does not.How should the nurse evaluate these results?

Accepted Answer

Confined placental mosaicism (CPM) occurs when there is mosaic chromosomal abnormality in the placenta but not in the fetus. CVS samples tissue from the placenta, while amniocentesis samples fetal cells in amniotic fluid, so it is possible for the two tests to produce different results. Amniocentesis is considered a more accurate test for detecting fetal chromosomal abnormalities. Anaphase lag is a rare event that can occur during cell division but does not explain the difference in results between tests.

Question 8

An infant's genetic disorder is a result of monosomy.What explanation would the nurse provide to the parents?

Accepted Answer

Monosomy is a genetic disorder that results from the absence of one chromosome in a pair. Therefore, the best explanation the nurse can provide is "Your baby is missing a chromosome." Choice B is incorrect because an individual with an extra set of all chromosomes would have triploidy, not monosomy. Choice C is incorrect because an extra chromosome would result in trisomy, not monosomy. Choice D is incorrect because haploid cells have only one set of chromosomes, whereas monosomy involves the absence of one chromosome in a pair.

Question 9

A client is diagnosed with trisomy mosaicism.How does the nurse interpret this diagnosis?

Accepted Answer

Trisomy mosaicism means that some of the individual's cells have the usual 46 chromosomes (diploid), while others have an extra chromosome, making 47 chromosomes in those cells. This condition does not involve having all cells with 48 chromosomes or having cells with 23 or 25 chromosomes.

Question 10

The nurse has provided a client with basic information about genetics.Which statement would indicate the client has understood the nurse's instruction?

Accepted Answer

Each person has thousands of genes, which is a correct understanding of basic genetics. This statement indicates the client has understood the nurse's instruction about the complexity and abundance of genes in the human genome.

Question 11

A woman has just experienced a spontaneous abortion.Which information would the nurse analyze before counseling the client?

Accepted Answer

The nurse would analyze the fetal gestational age (A), presence of malformations (B), the mother's age (D), and whether the fetus was small for gestational age (E) to understand potential reasons for the spontaneous abortion and provide appropriate counseling. The father's ethnicity (C) is less relevant to the immediate medical and emotional care required following a spontaneous abortion.

Question 12

A female nurse tells a genetics clinical nurse (GCN)that she would like to get pregnant,but that she has heard that nurses are at risk for having infants with environmentally induced genetic disorders.According to the research,how should the specialist reply?

Accepted Answer

Studies have indicated that nurses working in environments like the operating room or emergency department may have increased exposure to certain chemicals or radiation, which could potentially increase the risk of environmentally induced genetic disorders in offspring.

Question 13

What information would the nurse educator include when explaining how mosaicism occurs?

Accepted Answer

- Mosaicism occurs when a nondisjunction event happens after fertilization, leading to a mixture of cells with different genetic makeup. If this event occurs early (in the first one or two divisions), it can lead to generalized mosaicism, affecting a larger portion of the body's cells. The type of cells affected (e.g., skin, blood, germ cells) determines the specific impacts of mosaicism on the individual. If trisomic cells (cells with an extra chromosome) do not survive, the effects of mosaicism can be lessened, as the body may have fewer cells with abnormal chromosome numbers.

Question 14

A client's chorionic villus sampling (CVS)reveals the presence of trisomy.How would the nurse interpret this test result?

Accepted Answer

Chorionic villus sampling (CVS) involves the sampling of placental tissue, not fetal tissue, which means that trisomy found in a CVS result indicates trisomy in the placenta, not necessarily in the fetus. It is possible that trisomy found in the placenta may lead to problems in fetal development, but this cannot be determined from a CVS result alone.

Question 15

The parent of a child profoundly affected by a gene alteration says,"I don't understand how something so small can cause such problems." How should the nurse respond?

Accepted Answer

The degree of effect of the gene alteration depends on the specific gene that is damaged and the type of damage that is done. Different genes play a role in different aspects of development, and some genes may be more crucial than others. Simply put, some genes have a greater impact than others, and the level of effect is not solely dependent on the child's environment or the severity of the gene alteration.

Quiz 6: Mosiacism