Question 1

When taking a family history in the genetic clinic, the nurse will ask information about how many generations in the past?&#10;A)2&#10;B)3&#10;C)4&#10;D)5

Accepted Answer

A detailed three-generation family history, or pedigree, offers great insight into possible genetic conditions within a family.

Question 2

The nurse is counselling a couple in which the man has an autosomal recessive disorder, and the woman has no gene for the disorder. The nurse uses Punnett squares to show the couple that the probability of their having a child with the disorder is whichofthefollowing percentages?

A)0%
B) 25%
C)50%
D) 75%

0%

Accepted Answer

When one parent has no gene for an autosomal recessive disorder, the children will not display the characteristics of the disorder. However, the children will be carriers of the autosomal recessive disorder.

Question 3

When carrying out presymptomatic testing, which of the following diseases has a gene that is 100% penetrant?&#10;A)Tay-Sachs disease&#10;B)Fragile X syndrome&#10;C)Cystic fibrosis&#10;D)Huntington's disease

Accepted Answer

In presymptomatic 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.

Question 4

Which of the following terms describe the process by which the codon sequence is converted to amino acids?&#10;A)Transcription&#10;B)Mutation&#10;C)Translation&#10;D)Processing

Accepted Answer

After transcription is complete, translation occurs. Translation is the process through which the codon sequence is converted into amino acids.

Question 5

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?&#10;A)There is a 25% chance that the child will be affected.&#10;B)All male off-spring are affected.&#10;C)There is a 50% chance that the child will be affected.&#10;D)All female off-spring will be affected.

Accepted Answer

Brachydactyly is an autosomal dominant disorder, meaning that there is a 50% chance that off-spring will be affected. It happens equally in males and females.

Question 6

Aclient whose mother has diagnosed with BRCA gene-related breast cancer asks the nurse, "Do you think I should be tested for the gene?" Which of the following responses by the nurse is most appropriate?

A)"In most cases, breast cancer is not caused by the BRCA gene."
B)"It depends on how you will feel if the test is positive for the BRCA gene."
C)"There are many things to consider before deciding to have genetic testing."
D)"You should decide first whether you are willing to have a double mastectomy."

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Accepted Answer

Although presymptomatic testing for genetic disorders allows clients to take action (such as mastectomy) to prevent the development of some genetically caused disorders, clients also need to consider that test results in their medical file may impact other areas of their life. Telling a client that a decision about mastectomy should be made before testing implies that the nurse has made a judgement about what the client should do if the test is positive. Although the client may need to think about her reaction if the test is positive, other issues (e.g., insurance) also should be considered. Although most breast cancers are not related to BRCA gene alterations, the client with the gene alteration has a markedly increased risk for breast cancer.

Question 7

Anewly 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?&#10;A)8-10 weeks&#10;B)11-12 weeks&#10;C)15-16 weeks&#10;D)19-20 weeks

Accepted Answer

Chorionic villus sampling (CVS) is done in the first trimester, usually between 11 and 12 weeks' gestation.

Question 8

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?&#10;A)There is a 25% chance that the child will be affected.&#10;B)All male off-spring are affected.&#10;C)There is a 50% chance that the child will be affected.&#10;D)All female off-spring will be affected.

Accepted Answer

Cystic fibrosis is an autosomal recessive disorder, meaning that there is a 25% chance that off-spring will be affected. It happens equally in males and females.

Question 9

A male with mild hemophilia asks the nurse, &#34;Will my children be hemophiliacs?&#34; Which of the following responses by the nurse is most appropriate?&#10;A)&#34;All of your children will be at risk for hemophilia.&#34;&#10;B)&#34;Hemophilia is a multifactorial inherited condition.&#34;&#10;C)&#34;Only your male children are at risk for hemophilia.&#34;&#10;D)&#34;Your female children will be carriers for hemophilia.&#34;

Accepted Answer

Because hemophilia is caused by a mutation of the X-chromosome, all female children of a man with hemophilia are carriers of the disorder and can transmit the mutated gene to their offspring. Sons of a man with hemophilia will not have the disorder. Hemophilia is caused by a genetic mutation and is not a multifactorial inherited condition.

Question 10

Apregnant client 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 client to a qualified genetic counsellor.
B)Ask the client why genetic testing is important to her.
C)Remind the client that genetic testing has many social implications.
D)Tell the client that cystic fibrosis is an autosomal-recessive disorder.

Accepted Answer

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 client who is considering having children. Although genetic testing does have social implications, a pregnant client will be better served by a genetic counsellor who will have more expertise in this area. CF is an autosomal-recessive disorder, but the client might not understand the implications of this statement. Asking why the client feels genetic testing is important may imply to the client that the nurse is questioning her value system regarding issues such as abortion.

Question 11

Anewly pregnant woman asks the nurse what the best time is for a prenatal diagnostic amniocentesis? Which of the following time frames is the basis for the nurses' response?&#10;A)7-10 weeks&#10;B)11-13 weeks&#10;C)15-17 weeks&#10;D)20-24 weeks

Accepted Answer

The answer of Anewly pregnant woman asks the nurse what...

Deck 15: Genetics