Exam
Test Bank 1 for Essentials of Pediatric Nursing,
5th Edition by Kyle & Carman | Complete
Chapters with Verified Answers | Latest
Updated Edition 2026
1. Which genetic term refers to a person who possesses one copy of an affected gene and one copy of an
unaffected gene and is clinically unaffected?
a. Allele
b. Carrier
c. Pedigree
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Exam
d. Multifactorial - Correct Answer :ANS: B
An individual who is a carrier is asymptomatic but possesses a genetic alteration, either in the form of a gene or
chromosome change. Alleles are alternative expressions of genes at a different locus. A pedigree is a diagram
that describes family relationships, gender, disease, status, or other relevant information about a family.
Multifactorial describes a complex interaction of both genetic and environmental factors that produce an effect
on the individual.
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2. The nurse is assessing a neonate who was born 1 hr ago to healthy parents in their early forties. Which finding
should be most suggestive of Down syndrome?
a. Hypertonia
b. Low-set ears
c. Micrognathia
d. Long, thin fingers and toes –
Correct Answer :ANS: B
Children with Down syndrome have low-set ears. Infants with Down syndrome have hypotonia, not hypertonia.
Micrognathia is common in trisomy 16, not Down syndrome. Children with Down syndrome have short hands
with broad fingers.
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3. Turner syndrome is suspected in an adolescent girl with short stature. What causes this?
a. Absence of one of the X chromosomes
b. Presence of an incomplete Y chromosome
c. Precocious puberty in an otherwise healthy child
d. Excess production of both androgens and estrogens –
Correct Answer :ANS: A
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Exam
Turner syndrome is caused by an absence of one of the X chromosomes. Most girls who have this disorder have
one X chromosome missing from all cells. No Y chromosome is present in individuals with Turner syndrome.
These young women have 45 rather than 46 chromosomes.
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4. Which is a sex chromosome abnormality that is caused by the presence of one or more additional X
chromosomes in a male?
a. Turner
b. Triple X
c. Klinefelter
d. Trisomy 13 - Correct Answer :ANS: C
Klinefelter syndrome is characterized by one or more additional X chromosomes. These individuals are tall with
male secondary sexual characteristics that may be deficient, and they may be learning disabled. An absence of
an X chromosome results in Turner syndrome. Triple X and trisomy 13 are not abnormalities that involve one or
more additional X chromosomes in a male (Klinefelter syndrome).
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5. Parents ask the nurse about the characteristics of autosomal dominant inheritance. Which statement is
characteristic of autosomal dominant inheritance?
a. Females are affected with greater frequency than males.
b. Unaffected children of affected individuals will have affected children.
c. Each child of a heterozygous affected parent has a 50% chance of being affected.
d. Any child of two unaffected heterozygous parents has a 25% chance of being affected. –
Correct Answer :ANS: C
In autosomal dominant inheritance, only one copy of the mutant gene is necessary to cause the disorder. When
a parent is affected, there is a 50% chance that the chromosome with the gene for the disorder will be
contributed to each pregnancy. Males and females are equally affected. The disorder does not "skip" a
generation. If the child is not affected, then most likely he or she is not a carrier of the gene for the disorder. In
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autosomal recessive inheritance, any child of two unaffected heterozygous parents has a 25% chance of being
affected.
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6. Parents ask the nurse about the characteristics of autosomal recessive inheritance. Which is characteristic of
autosomal recessive inheritance?
a. Affected individuals have unaffected parents.
b. Affected individuals have one affected parent.
c. Affected parents have a 50% chance of having an affected child.
d. Affected parents will have unaffected children. - Correct Answer :ANS: A
Parents who are carriers of a recessive gene are asymptomatic. For a child to be affected, both parents must
have a copy of the gene, which is passed to the child. Both parents are asymptomatic but can have affected
children. In autosomal recessive inheritance, there is a 25% chance that each pregnancy will result in an affected
child. In autosomal dominant inheritance, affected parents can have unaffected children.
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7. Which is characteristic of X-linked recessive inheritance?
a. There are no carriers.
b. Affected individuals are principally males.
c. Affected individuals are principally females.
Affected individuals will always have affected parents. - Correct Answer :ANS: B
In X-linked recessive disorders, the affected individuals are usually male. With recessive traits, usually two copies
of the gene are needed to produce the effect. Because the male only has one X chromosome, the effect is
visible with only one copy of the gene. Females are usually only carriers of X-linked recessive disorders. The X
chromosome that does not have the recessive gene will produce the "normal" protein, so the woman will not
show evidence of the disorder. The transmission is from mother to son. Usually, the mother and father are
unaffected.
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