Chapter 03: Nursing and Genomics
MULTIPLE CHOICE
1. A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has
the condition. The couple tells the nurse that they are expecting a second baby. Because
their daughter has PKU, they are certain that this baby will not be affected. Which response
by the nurse is the most accurate?
a. “Good planning. You need to take advantage of the odds that are in your favor.”
b. “I think you’d better first check with your physician.”
c. “You are both carriers; therefore, each baby has a 25% chance of being affected.”
d. “The ultrasound indicates a boy, and boys are not affected by PKU.”
ANS: C
Each child conceived by this couple has a one-in-four chance of being affected with the
PKU disorder. This couple still has an increased likelihood of having a child with PKU;
having one child already with PKU does not guarantee that they will not have another.
These parents need to discuss their options with their physician since the pregnancy has
already occurred. However, an opportune time has presented itself for the couple to receive
correct teaching about inherited genetic risks. No correlation exists between gender and
inheritance of the disorder, because PKU is an autosomal recessive disorder.
PTS: 1 DIF: Cognitive Level: Apply
TOP: Nursing Process: Planning
MSC: Client Needs: HealtN
hUPrRoS
mI ioG
otN nTanBd.MCaO
inM
tenance
2. A client is 5 months pregnant. On a routine ultrasound scan, the physician discovers that the
fetus has a diaphragmatic hernia. The woman becomes distraught and asks the nurse what
she should do. Which response would be most suitable?
a. Talk to the client and refer her to a genetic counselor.
b. Suggest that the client travel to a fetal treatment center for intrauterine surgery.
c. Tell her that everything is going to be fine.
d. Sit with the client, and calmly suggest that she consider terminating this
pregnancy.
ANS: A
Before the client makes any decisions, she should discuss this newly discovered information
with a genetic counselor. Genetic counselors can help with the diagnosis and management
of families affected by genetic conditions. The discussion of potential surgery should be
pursuant to genetic counseling. Telling the woman that everything is going to be fine may
give her false hope and is not accurate. All options should be discussed with the genetic
counselor. Furthermore, the guiding principle for genetic counseling is nondirection, which
respects the right of the individual or family who are being counseled to make autonomous
decisions.
PTS: 1 DIF: Cognitive Level: Apply
TOP: Nursing Process: Planning
MSC: Client Needs: Health Promotion and Maintenance
,3. A new father has just been told that his infant has trisomy 18. Which identifying physical
feature is unique to an infant with this genetic disorder?
a. Microcephaly and capillary hemangiomas
b. Epicanthal folds and a simian crease
c. Oblique palpebral fissures and Cri du chat syndrome
d. Rocker-bottom feet and clenched hands with overlapping fingers
ANS: D
Rocker-bottom feet and clenched hands with overlapping fingers are associated with
trisomy 18. Microcephaly and capillary hemangiomas are associated with trisomy 13.
Epicanthal folds and a simian crease are associated with trisomy 21 (Down syndrome).
Deletion of the short arm of chromosome number 5 is manifested by Cri du chat syndrome.
PTS: 1 DIF: Cognitive Level: Applying
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
4. A nurse is assessing the knowledge of new parents of a child born with Klinefelter
syndrome. Which statement accurately describes this genetic disorder?
a. Klinefelter syndrome is a sex chromosome abnormality.
b. It affects only female children.
c. The disorder is expressed as trisomy XYY.
d. The child with this disorder will grow to be infertile.
ANS: A
Klinefelter syndrome, also known as trisomy XXY, is a sex chromosomal deviation that is
expressed in males. Turner N RSom
syUndr IN GTonosom
e (m B.COy X) is displayed in females. Most males
with Klinefelter syndrome are tall, may be infertile, and are slow to learn; however, those
who have mosaic Klinefelter syndrome may be fertile as adults.
PTS: 1 DIF: Cognitive Level: Understand
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
5. A 32-year-old woman is pregnant for the third time. One child was born with cystic fibrosis,
and the other child is healthy. The client and her partner wonder what chance this child has
of having cystic fibrosis. This type of testing is most commonly known as what?
a. Occurrence risk
b. Recurrence risk
c. Predictive testing
d. Predisposition testing
ANS: B
The couple already has a child with a genetic disease; therefore, this couple will be given a
recurrence risk test. If a couple has not yet had a child but is known to be at risk for having a
child with a genetic disease, then an occurrence risk test is administered. Predictive testing
clarifies the genetic status of an asymptomatic family member. Predisposition testing differs
from pre-symptomatic testing in that a positive result does not indicate 100% risk of a
condition developing.
, PTS: 1 DIF: Cognitive Level: Understand
TOP: Nursing Process: Planning
MSC: Client Needs: Health Promotion and Maintenance
6. Cancer is now recognized as a genetic disorder that begins with one or more genetic
mutations. Which type of cancer is specifically being investigated in this regard?
a. Lung cancer
b. Liver cancer
c. Colorectal cancer
d. Oral cancer
ANS: C
Colorectal cancer usually results from one or more predisposing genes and is the third
leading cause of cancer deaths in women. Although tobacco smoke is a known causative
factor for lung cancer, an acquired mutation of an oncogene may also be present. Liver
cancer is not being investigated in this regard. Oral cancer may be caused by an inherited
mutation of one or more oncogenes.
PTS: 1 DIF: Cognitive Level: Remember
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
7. Which statement describes a key finding of the Human Genome Project?
a. Humans produce one protein per gene.
b. All human beings are 99.9% identical at the deoxyribonucleic acid (DNA) level.
c. The Human Genome PrNojeR ct haIs nG
ot yB
et.bC
eenM
able to translate the accumulating
U S N
raw research into anything medically practical.
d. Humans have more genes than other species.
ANS: B
The majority of the 0.1% genetic variations are found within and not among populations.
Most human genes produce at least three proteins. The project’s research has been very
valuable in the identification of genes involved in disease and in the development of genetic
testing. There are 20,500 genes in the human genome; scientists originally estimated more
than 50,000 genes. Human genes are more efficient than the genes in other species, thereby
increasing the human genetic complexity.
PTS: 1 DIF: Cognitive Level: Remember
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
8. Which condition or treatment reduces the risk of morbidity in women with the inherited
factor V Leiden disorder?
a. Anticoagulant therapy
b. Pregnancy
c. Oral contraceptives
d. Hormone replacement therapy
ANS: A
MULTIPLE CHOICE
1. A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has
the condition. The couple tells the nurse that they are expecting a second baby. Because
their daughter has PKU, they are certain that this baby will not be affected. Which response
by the nurse is the most accurate?
a. “Good planning. You need to take advantage of the odds that are in your favor.”
b. “I think you’d better first check with your physician.”
c. “You are both carriers; therefore, each baby has a 25% chance of being affected.”
d. “The ultrasound indicates a boy, and boys are not affected by PKU.”
ANS: C
Each child conceived by this couple has a one-in-four chance of being affected with the
PKU disorder. This couple still has an increased likelihood of having a child with PKU;
having one child already with PKU does not guarantee that they will not have another.
These parents need to discuss their options with their physician since the pregnancy has
already occurred. However, an opportune time has presented itself for the couple to receive
correct teaching about inherited genetic risks. No correlation exists between gender and
inheritance of the disorder, because PKU is an autosomal recessive disorder.
PTS: 1 DIF: Cognitive Level: Apply
TOP: Nursing Process: Planning
MSC: Client Needs: HealtN
hUPrRoS
mI ioG
otN nTanBd.MCaO
inM
tenance
2. A client is 5 months pregnant. On a routine ultrasound scan, the physician discovers that the
fetus has a diaphragmatic hernia. The woman becomes distraught and asks the nurse what
she should do. Which response would be most suitable?
a. Talk to the client and refer her to a genetic counselor.
b. Suggest that the client travel to a fetal treatment center for intrauterine surgery.
c. Tell her that everything is going to be fine.
d. Sit with the client, and calmly suggest that she consider terminating this
pregnancy.
ANS: A
Before the client makes any decisions, she should discuss this newly discovered information
with a genetic counselor. Genetic counselors can help with the diagnosis and management
of families affected by genetic conditions. The discussion of potential surgery should be
pursuant to genetic counseling. Telling the woman that everything is going to be fine may
give her false hope and is not accurate. All options should be discussed with the genetic
counselor. Furthermore, the guiding principle for genetic counseling is nondirection, which
respects the right of the individual or family who are being counseled to make autonomous
decisions.
PTS: 1 DIF: Cognitive Level: Apply
TOP: Nursing Process: Planning
MSC: Client Needs: Health Promotion and Maintenance
,3. A new father has just been told that his infant has trisomy 18. Which identifying physical
feature is unique to an infant with this genetic disorder?
a. Microcephaly and capillary hemangiomas
b. Epicanthal folds and a simian crease
c. Oblique palpebral fissures and Cri du chat syndrome
d. Rocker-bottom feet and clenched hands with overlapping fingers
ANS: D
Rocker-bottom feet and clenched hands with overlapping fingers are associated with
trisomy 18. Microcephaly and capillary hemangiomas are associated with trisomy 13.
Epicanthal folds and a simian crease are associated with trisomy 21 (Down syndrome).
Deletion of the short arm of chromosome number 5 is manifested by Cri du chat syndrome.
PTS: 1 DIF: Cognitive Level: Applying
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
4. A nurse is assessing the knowledge of new parents of a child born with Klinefelter
syndrome. Which statement accurately describes this genetic disorder?
a. Klinefelter syndrome is a sex chromosome abnormality.
b. It affects only female children.
c. The disorder is expressed as trisomy XYY.
d. The child with this disorder will grow to be infertile.
ANS: A
Klinefelter syndrome, also known as trisomy XXY, is a sex chromosomal deviation that is
expressed in males. Turner N RSom
syUndr IN GTonosom
e (m B.COy X) is displayed in females. Most males
with Klinefelter syndrome are tall, may be infertile, and are slow to learn; however, those
who have mosaic Klinefelter syndrome may be fertile as adults.
PTS: 1 DIF: Cognitive Level: Understand
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
5. A 32-year-old woman is pregnant for the third time. One child was born with cystic fibrosis,
and the other child is healthy. The client and her partner wonder what chance this child has
of having cystic fibrosis. This type of testing is most commonly known as what?
a. Occurrence risk
b. Recurrence risk
c. Predictive testing
d. Predisposition testing
ANS: B
The couple already has a child with a genetic disease; therefore, this couple will be given a
recurrence risk test. If a couple has not yet had a child but is known to be at risk for having a
child with a genetic disease, then an occurrence risk test is administered. Predictive testing
clarifies the genetic status of an asymptomatic family member. Predisposition testing differs
from pre-symptomatic testing in that a positive result does not indicate 100% risk of a
condition developing.
, PTS: 1 DIF: Cognitive Level: Understand
TOP: Nursing Process: Planning
MSC: Client Needs: Health Promotion and Maintenance
6. Cancer is now recognized as a genetic disorder that begins with one or more genetic
mutations. Which type of cancer is specifically being investigated in this regard?
a. Lung cancer
b. Liver cancer
c. Colorectal cancer
d. Oral cancer
ANS: C
Colorectal cancer usually results from one or more predisposing genes and is the third
leading cause of cancer deaths in women. Although tobacco smoke is a known causative
factor for lung cancer, an acquired mutation of an oncogene may also be present. Liver
cancer is not being investigated in this regard. Oral cancer may be caused by an inherited
mutation of one or more oncogenes.
PTS: 1 DIF: Cognitive Level: Remember
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
7. Which statement describes a key finding of the Human Genome Project?
a. Humans produce one protein per gene.
b. All human beings are 99.9% identical at the deoxyribonucleic acid (DNA) level.
c. The Human Genome PrNojeR ct haIs nG
ot yB
et.bC
eenM
able to translate the accumulating
U S N
raw research into anything medically practical.
d. Humans have more genes than other species.
ANS: B
The majority of the 0.1% genetic variations are found within and not among populations.
Most human genes produce at least three proteins. The project’s research has been very
valuable in the identification of genes involved in disease and in the development of genetic
testing. There are 20,500 genes in the human genome; scientists originally estimated more
than 50,000 genes. Human genes are more efficient than the genes in other species, thereby
increasing the human genetic complexity.
PTS: 1 DIF: Cognitive Level: Remember
TOP: Nursing Process: Assessment
MSC: Client Needs: Health Promotion and Maintenance
8. Which condition or treatment reduces the risk of morbidity in women with the inherited
factor V Leiden disorder?
a. Anticoagulant therapy
b. Pregnancy
c. Oral contraceptives
d. Hormone replacement therapy
ANS: A
