Chapter 08: Overview of Genetics and Genomics in
Nursing
Hinkle: Brunner & Suddarth's Textbook of Medical-
Surgical Nursing, 13th Edition
MULTIPLE
CHOICE
1. A baby is born with what the physician believes is a diagnosis
of trisomy 21. This means that the infant has three number 21
chromosomes. What factor describes the etiology of this
genetic change?
A) The mother also has genetic mutation of chromosome 21.
B) The patient has a nondisjunction occurring during meiosis.
C) During meiosis, a reduction of chromosomes resulted in 23.
D) The patient will have a single X chromosome and infertility.
ANS: B
During meiosis, a pair of chromosomes may fail to separate
completely, creating a sperm or oocyte that contains either two
copies or no copy of a particular chromosome. This sporadic
event, called nondisjunction, can lead to trisomy. Down
syndrome is an example of trisomy. The mother does not have a
mutation of chromosome 21, which is indicated in the question.
Also, trisomy does not produce a single X chromosome and
infertility. Genes are packaged and arranged in a linear order
within chromosomes, which are located in the cell nucleus. In
humans, 46 chromosomes occur in pairs in all body cells except
oocytes and sperm, which contain only 23 chromosomes.
, 2. The nurse reviews a patient's chart and notes that the patient
has a gene mutation that affects protein structure, producing
hemoglobin S. The nurse knows that with this gene mutation,
the patient will experience symptoms of what?
A) Peripheral and pulmonary edema
B) Thrombotic organ damage
C) Metastasis of a glioblastoma
D) Amyotrophic lateral sclerosis
ANS: B
Sickle cell anemia is an example of a genetic condition caused
by a small gene mutation that affects protein structure,
producing hemoglobin S. A person who inherits two copies of
the hemoglobin S gene mutation has sickle cell anemia and
experiences the symptoms of severe anemia and thrombotic
organ damage resulting in hypoxia. Amyotrophic lateral
sclerosis is a neurodegenerative disease that can occur as a
result of an inherited mutation, but not a mutation of
hemoglobin S. The patient with sickle cell anemia may
experience edema, but it would not be related to the gene
mutation. A glioblastoma is a neurologic tumor.
3. During the admission assessment, the nurse notes many cafÈ-
au-lait spots on the patient's trunk, back, neck, and legs and
suspects that the patient has neurofibromatosis. Based on the
nurse's knowledge of neurofibromatosis, the nurse understands
that a single family member has which of the following?
,A) A spontaneous mutation
B) A germline mutation
C) A nondisjunction
D)
A
m
o
n
o
s
o
m
y
A
N
S
:
A
Spontaneous mutations take place in individual oocytes or
sperm at the time of conception. These mutations are not
inherited in other family members. However, a person who
carries the new spontaneous mutation may pass on the mutation
to his or her children. Achondroplasia, Marfan syndrome, and
neurofibromatosis type 1 are examples of genetic conditions
, that may occur in a single family member as a result of
spontaneous mutation. Germline mutations are passed on to all
daughter cells when body cells replicate. During meiosis, a pair
of chromosomes may fail to separate completely, creating a
sperm or oocyte that contains two copies or no copy of a
particular chromosome. This sporadic event, called
nondisjunction, can lead to either trisomy or a monosomy.
4. A 45-year-old man has just been diagnosed with Huntington
disease. He and his wife are concerned about their four
children. What will the nurse understand about the children's
possibility of inheriting the gene for the disease?
A) Each child will have a 25% chance of inheriting the disease.
B) Each child will have a 50% chance of inheriting the disease.
C) Each child will have a 75% chance of inheriting the disease.
D) Each child will have no chance of inheriting the disease.
ANS: B
Huntington disease is an autosomal dominant disorder.
Autosomal dominant inherited conditions affect female and
male family members equally and follow a vertical pattern of
inheritance in families. A person who has an autosomal
dominant inherited condition carries a gene mutation for that
condition on one chromosome pair. Each of that person's
offspring has a 50% chance of inheriting the gene mutation for
the condition and a 50% chance of inheriting the normal version
of the gene.
Nursing
Hinkle: Brunner & Suddarth's Textbook of Medical-
Surgical Nursing, 13th Edition
MULTIPLE
CHOICE
1. A baby is born with what the physician believes is a diagnosis
of trisomy 21. This means that the infant has three number 21
chromosomes. What factor describes the etiology of this
genetic change?
A) The mother also has genetic mutation of chromosome 21.
B) The patient has a nondisjunction occurring during meiosis.
C) During meiosis, a reduction of chromosomes resulted in 23.
D) The patient will have a single X chromosome and infertility.
ANS: B
During meiosis, a pair of chromosomes may fail to separate
completely, creating a sperm or oocyte that contains either two
copies or no copy of a particular chromosome. This sporadic
event, called nondisjunction, can lead to trisomy. Down
syndrome is an example of trisomy. The mother does not have a
mutation of chromosome 21, which is indicated in the question.
Also, trisomy does not produce a single X chromosome and
infertility. Genes are packaged and arranged in a linear order
within chromosomes, which are located in the cell nucleus. In
humans, 46 chromosomes occur in pairs in all body cells except
oocytes and sperm, which contain only 23 chromosomes.
, 2. The nurse reviews a patient's chart and notes that the patient
has a gene mutation that affects protein structure, producing
hemoglobin S. The nurse knows that with this gene mutation,
the patient will experience symptoms of what?
A) Peripheral and pulmonary edema
B) Thrombotic organ damage
C) Metastasis of a glioblastoma
D) Amyotrophic lateral sclerosis
ANS: B
Sickle cell anemia is an example of a genetic condition caused
by a small gene mutation that affects protein structure,
producing hemoglobin S. A person who inherits two copies of
the hemoglobin S gene mutation has sickle cell anemia and
experiences the symptoms of severe anemia and thrombotic
organ damage resulting in hypoxia. Amyotrophic lateral
sclerosis is a neurodegenerative disease that can occur as a
result of an inherited mutation, but not a mutation of
hemoglobin S. The patient with sickle cell anemia may
experience edema, but it would not be related to the gene
mutation. A glioblastoma is a neurologic tumor.
3. During the admission assessment, the nurse notes many cafÈ-
au-lait spots on the patient's trunk, back, neck, and legs and
suspects that the patient has neurofibromatosis. Based on the
nurse's knowledge of neurofibromatosis, the nurse understands
that a single family member has which of the following?
,A) A spontaneous mutation
B) A germline mutation
C) A nondisjunction
D)
A
m
o
n
o
s
o
m
y
A
N
S
:
A
Spontaneous mutations take place in individual oocytes or
sperm at the time of conception. These mutations are not
inherited in other family members. However, a person who
carries the new spontaneous mutation may pass on the mutation
to his or her children. Achondroplasia, Marfan syndrome, and
neurofibromatosis type 1 are examples of genetic conditions
, that may occur in a single family member as a result of
spontaneous mutation. Germline mutations are passed on to all
daughter cells when body cells replicate. During meiosis, a pair
of chromosomes may fail to separate completely, creating a
sperm or oocyte that contains two copies or no copy of a
particular chromosome. This sporadic event, called
nondisjunction, can lead to either trisomy or a monosomy.
4. A 45-year-old man has just been diagnosed with Huntington
disease. He and his wife are concerned about their four
children. What will the nurse understand about the children's
possibility of inheriting the gene for the disease?
A) Each child will have a 25% chance of inheriting the disease.
B) Each child will have a 50% chance of inheriting the disease.
C) Each child will have a 75% chance of inheriting the disease.
D) Each child will have no chance of inheriting the disease.
ANS: B
Huntington disease is an autosomal dominant disorder.
Autosomal dominant inherited conditions affect female and
male family members equally and follow a vertical pattern of
inheritance in families. A person who has an autosomal
dominant inherited condition carries a gene mutation for that
condition on one chromosome pair. Each of that person's
offspring has a 50% chance of inheriting the gene mutation for
the condition and a 50% chance of inheriting the normal version
of the gene.
