1
BSN 346 - Sherpath Week 9 Cellular Regulation
Questions with Correct Answers | Updated (100%
Correct Answers)
A woman of advanced maternal age undergoes genetic testing during her
pregnancy. If the fetus has Down syndrome, how many chromosomes would the
test identify?
23
45
46
47 Answer: 47
The typical child with Down syndrome has 3 copies of the 21st chromosome,
which results in a total of 47 chromosomes found in each cell.
Which response is most appropriate when the parents (both heterozygotes) of a
child born with cystic fibrosis ask the probability of future pregnancies resulting
in a child inheriting the disease?
25%
50%
75%
100% Answer: 25%
© 2026 All rights reserved
,2
A child that inherits an autosomal recessive disorder must receive the affected
gene from both parents. Using a Punnett square, the probability can be seen to
be 25%.
RATIONALE FOR INCORRECT:
50%
50% would be the inheritance pattern of an autosomal dominant disease where
one parent is affected.
75%
75% would be the probability of having a child who does not have cystic fibrosis.
100%
All children born to two parents who have an autosomal recessive disease will
have the disease; this would equate to 100% of the offspring.
What is the probability of having a child with cystic fibrosis if one parent has the
disease and the other is a carrier?
25%
50%
75%
100% Answer: 50%
© 2026 All rights reserved
,3
The probability is 50% because the affected parent will pass on the gene to all
children and the other has a 50% chance of passing on the gene.
RATIONALE FOR INCORRECT:
25%
This would be the case if both parents were carriers.
75%
This is the probability of an unaffected child if both parents were carriers.
100%
This would be the case if both parents had the disease.
A newborn child is noted to have malodorous, musty urine and later shows signs
of developmental delay and seizures. Which disorder presents with these
characteristics?
Sickle Cell
Phenylketonuria
Marfan Syndrome
Muscular Dystrophy Answer: Phenylketonuria
Phenylketonuria leads to buildup of toxic phenylalanine. This can be neurotoxic,
causing brain damage, developmental delay, and seizures. There is also a
characteristic musty odor to the urine.
© 2026 All rights reserved
, 4
RATIONALE FOR INCORRECT:
Sickle Cell
Sickle cell causes painful crises, avascular necrosis, and anemia.
Marfan Syndrome
Marfan syndrome presents with long limbs and fingers and potentially serious
aortic disease.
Muscular Dystrophy
Muscular dystrophy causes muscle weakness and wasting and cardiomyopathy.
A 70-year-old man and his 45-year-old wife have a child who is found to have a
genetic disorder. What signs and symptoms are likely to be seen in this child
born to parents of advanced maternal and paternal age?
Select all that apply.
Leukemia
Gowers Sign
Visual Problems
Hearing Disorders
Congenital Heart Defects Answer: Leukemia
© 2026 All rights reserved
BSN 346 - Sherpath Week 9 Cellular Regulation
Questions with Correct Answers | Updated (100%
Correct Answers)
A woman of advanced maternal age undergoes genetic testing during her
pregnancy. If the fetus has Down syndrome, how many chromosomes would the
test identify?
23
45
46
47 Answer: 47
The typical child with Down syndrome has 3 copies of the 21st chromosome,
which results in a total of 47 chromosomes found in each cell.
Which response is most appropriate when the parents (both heterozygotes) of a
child born with cystic fibrosis ask the probability of future pregnancies resulting
in a child inheriting the disease?
25%
50%
75%
100% Answer: 25%
© 2026 All rights reserved
,2
A child that inherits an autosomal recessive disorder must receive the affected
gene from both parents. Using a Punnett square, the probability can be seen to
be 25%.
RATIONALE FOR INCORRECT:
50%
50% would be the inheritance pattern of an autosomal dominant disease where
one parent is affected.
75%
75% would be the probability of having a child who does not have cystic fibrosis.
100%
All children born to two parents who have an autosomal recessive disease will
have the disease; this would equate to 100% of the offspring.
What is the probability of having a child with cystic fibrosis if one parent has the
disease and the other is a carrier?
25%
50%
75%
100% Answer: 50%
© 2026 All rights reserved
,3
The probability is 50% because the affected parent will pass on the gene to all
children and the other has a 50% chance of passing on the gene.
RATIONALE FOR INCORRECT:
25%
This would be the case if both parents were carriers.
75%
This is the probability of an unaffected child if both parents were carriers.
100%
This would be the case if both parents had the disease.
A newborn child is noted to have malodorous, musty urine and later shows signs
of developmental delay and seizures. Which disorder presents with these
characteristics?
Sickle Cell
Phenylketonuria
Marfan Syndrome
Muscular Dystrophy Answer: Phenylketonuria
Phenylketonuria leads to buildup of toxic phenylalanine. This can be neurotoxic,
causing brain damage, developmental delay, and seizures. There is also a
characteristic musty odor to the urine.
© 2026 All rights reserved
, 4
RATIONALE FOR INCORRECT:
Sickle Cell
Sickle cell causes painful crises, avascular necrosis, and anemia.
Marfan Syndrome
Marfan syndrome presents with long limbs and fingers and potentially serious
aortic disease.
Muscular Dystrophy
Muscular dystrophy causes muscle weakness and wasting and cardiomyopathy.
A 70-year-old man and his 45-year-old wife have a child who is found to have a
genetic disorder. What signs and symptoms are likely to be seen in this child
born to parents of advanced maternal and paternal age?
Select all that apply.
Leukemia
Gowers Sign
Visual Problems
Hearing Disorders
Congenital Heart Defects Answer: Leukemia
© 2026 All rights reserved
