APEA Peds Genetics
Objective assessment exam
: updated syllabus
<Newest version>
100% guaranteed pass
The pediatric nurse practitioner sees a new patient who has a history of
achondroplasia. Which of the following would be least effective?
Annual hearing evaluation
Monitoring for motor delays
Monitoring for obstructive sleep apnea
Annual thyroid screen - ANSWER ✅Annual thyroid screen
A newborn with sickle cell disease is being seen in the clinic today. The parents,
who are asymptomatic, want to know the likelihood that their future children will
be born with sickle cell disease. The nurse practitioner states:
about 25%.
about 50%.
about 75%.
100%. - ANSWER ✅about 25%.
The nurse practitioner is caring for a 2-year-old with neurofibromatosis type 1.
The child should be most closely monitored by which one the following
specialists?
Pulmonologist
Cardiologist
Ophthalmologist
Neurologist - ANSWER ✅Ophthalmologist
When treating a child who has Marfan syndrome, it is most important to assess for
potential:
cardiac problems.
connective tissue problems.
spontaneous pneumothoraxes.
joint mobility disorders. - ANSWER ✅cardiac problems.
, The nurse practitioner is seeing a patient with Klinefelter syndrome (XXY
karyotype). Which finding is least likely to be attributed to this syndrome?
Short stature
Long arm span
Delayed puberty
Autoimmune disorders - ANSWER ✅short stature
The mother of a 2-year-old boy is pregnant with her second child, who is a girl.
The father of the children has an X-linked dominant disorder. The mother wants to
know the likelihood that her daughter will have the disorder, since her son does
not. What is the best response?
She is only at risk if you have it too
There is a 25% chance she will have the disorder
She will definitely have the disorder
There is a 50% chance she will have the disorder - ANSWER ✅She will
definitely have the disorder
x-linked dominant in father is definite presentation in daughter.
dad always passes X to daughter, only passes Y in son
A 13-year-old boy is being evaluated for the first time in the NP's office. He has
recently been placed in foster care and his past medical history is unavailable. He
is currently in special education classes at school. On exam, it is noted that the
adolescent has an elongated face with a large head and prominent forehead.
Inspection of the tympanic membranes reveal bilateral scarring, and he has partial
hearing loss in both ears. What is the most likely diagnosis?
Down syndrome
Fragile X syndrome
Turner syndrome
Beckwith-Wiedemann syndrome - ANSWER ✅Fragile X syndrome
A 15-year-old girl with Turner syndrome is receiving estrogen and progesterone
therapy. The adolescent wants to know if she will be able to have children later in
life. What is the best response?
There is a good chance you will be able to.
It is highly unlikely you will be able to.
About 50% of women with Turner syndrome are able to have children.
As long as you take these hormones, you should be able to have children -
ANSWER ✅It is highly unlikely you will be able to.
Objective assessment exam
: updated syllabus
<Newest version>
100% guaranteed pass
The pediatric nurse practitioner sees a new patient who has a history of
achondroplasia. Which of the following would be least effective?
Annual hearing evaluation
Monitoring for motor delays
Monitoring for obstructive sleep apnea
Annual thyroid screen - ANSWER ✅Annual thyroid screen
A newborn with sickle cell disease is being seen in the clinic today. The parents,
who are asymptomatic, want to know the likelihood that their future children will
be born with sickle cell disease. The nurse practitioner states:
about 25%.
about 50%.
about 75%.
100%. - ANSWER ✅about 25%.
The nurse practitioner is caring for a 2-year-old with neurofibromatosis type 1.
The child should be most closely monitored by which one the following
specialists?
Pulmonologist
Cardiologist
Ophthalmologist
Neurologist - ANSWER ✅Ophthalmologist
When treating a child who has Marfan syndrome, it is most important to assess for
potential:
cardiac problems.
connective tissue problems.
spontaneous pneumothoraxes.
joint mobility disorders. - ANSWER ✅cardiac problems.
, The nurse practitioner is seeing a patient with Klinefelter syndrome (XXY
karyotype). Which finding is least likely to be attributed to this syndrome?
Short stature
Long arm span
Delayed puberty
Autoimmune disorders - ANSWER ✅short stature
The mother of a 2-year-old boy is pregnant with her second child, who is a girl.
The father of the children has an X-linked dominant disorder. The mother wants to
know the likelihood that her daughter will have the disorder, since her son does
not. What is the best response?
She is only at risk if you have it too
There is a 25% chance she will have the disorder
She will definitely have the disorder
There is a 50% chance she will have the disorder - ANSWER ✅She will
definitely have the disorder
x-linked dominant in father is definite presentation in daughter.
dad always passes X to daughter, only passes Y in son
A 13-year-old boy is being evaluated for the first time in the NP's office. He has
recently been placed in foster care and his past medical history is unavailable. He
is currently in special education classes at school. On exam, it is noted that the
adolescent has an elongated face with a large head and prominent forehead.
Inspection of the tympanic membranes reveal bilateral scarring, and he has partial
hearing loss in both ears. What is the most likely diagnosis?
Down syndrome
Fragile X syndrome
Turner syndrome
Beckwith-Wiedemann syndrome - ANSWER ✅Fragile X syndrome
A 15-year-old girl with Turner syndrome is receiving estrogen and progesterone
therapy. The adolescent wants to know if she will be able to have children later in
life. What is the best response?
There is a good chance you will be able to.
It is highly unlikely you will be able to.
About 50% of women with Turner syndrome are able to have children.
As long as you take these hormones, you should be able to have children -
ANSWER ✅It is highly unlikely you will be able to.
