Chapter 03: Nursing and Genomics
Study Guide Questions with Solved
Solutions.
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 having 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." - Answer 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. 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.
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. - Answer
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.
, daughter, you note axillary freckling and several café-au-lait spots (>2 cm). In reviewing her
chart, the nurse should assess for documentation of which genetic disease?
a.Tay-Sachs disease
b.Galactosemia
c.Neurofibromatosis (NF)
d.PKU - Answer ANS: C
Clinical manifestations of NF may include axillary freckling and café-au-lait spots. Tay-Sachs
disease is an incurable lipid-storage disorder and is not associated with café-au-lait spots.
Galactosemia is an inborn error of metabolism and is also not associated with café-au-lait spots.
PKU is not associated with café-au-lait spots. A child with PKU would have difficulty
manufacturing the liver enzyme phenylalanine.
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 - Answer 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.
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. - Answer ANS: A
Klinefelter syndrome, also known as trisomy XXY, is a sex chromosomal deviation that is
expressed in males. Turner syndrome (monosomy X) is displayed in females. Most males with
Klinefelter syndrome are tall, may be infertile, and are slow to learn; however, those who have
Study Guide Questions with Solved
Solutions.
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 having 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." - Answer 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. 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.
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. - Answer
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.
, daughter, you note axillary freckling and several café-au-lait spots (>2 cm). In reviewing her
chart, the nurse should assess for documentation of which genetic disease?
a.Tay-Sachs disease
b.Galactosemia
c.Neurofibromatosis (NF)
d.PKU - Answer ANS: C
Clinical manifestations of NF may include axillary freckling and café-au-lait spots. Tay-Sachs
disease is an incurable lipid-storage disorder and is not associated with café-au-lait spots.
Galactosemia is an inborn error of metabolism and is also not associated with café-au-lait spots.
PKU is not associated with café-au-lait spots. A child with PKU would have difficulty
manufacturing the liver enzyme phenylalanine.
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 - Answer 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.
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. - Answer ANS: A
Klinefelter syndrome, also known as trisomy XXY, is a sex chromosomal deviation that is
expressed in males. Turner syndrome (monosomy X) is displayed in females. Most males with
Klinefelter syndrome are tall, may be infertile, and are slow to learn; however, those who have
