APEA PEDS GENETICS WITH QUESTIONS AND WELL
VERIFIED ANSWERS ALREADY GRADED A+ REAL EXAM
!!! REAL EXAM !!
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-Wiedema 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 - ----ANS---It is highly unlikely
you will be able to.
At birth, infants with Beckwith-Wiedemann syndrome (BWS) will exhibit the classic symptom of:
cleft palate.
hyperglycemia.
microsomia.
omphalocele. - ----ANS---omphalocele.
other symptoms include macroglossia and macrosomia
, may also exhibit enlarged organs, large placenta, and/or long umbilical cord, hypoglycemia, kidney
abnormalities, characteristics facies of midface hypoplasia and infraorbital creases and advanced bone
age
A 2-year-old child is a newly established patient. The mother explains that she has always taken the child
to an urgent care facility, but was urged by the facility to establish a medical home. The mother reports
that the child has a history of frequent otitis media and short stature. The exam reveals: ptosis with
down slanting palpebral fissures; low, posteriorly rotated ears; seven pigmented nevi; nuchal folds; and
short stature. The nurse practitioner decides to have the child genetically tested for:
Down syndrome.
Fetal alcohol syndrome.
Turner syndrome.
Beckwith-Wiedemann syndrome. - ----ANS---Turner syndrome.
An 18-month old girl is a newly established patient. The toddler has microcephaly, is happy, and flaps
her hands during the visit. She is delayed in developmental milestones. She is referred to genetics for
chromosomal testing to rule out:
autism.
Fragile X syndrome.
Turner syndrome.
Angelman syndrome. - ----ANS---Angelman syndrome.
A newborn presents with microcephaly, is small for gestational age, and has short palpebral fissures and
a long, smooth philtrum. The provider determines that the most likely diagnosis is:
Down syndrome.
fetal alcohol syndrome.
Turner syndrome.
Beckwith-Wiedemann syndrome. - ----ANS---fetal alcohol syndrome.
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
VERIFIED ANSWERS ALREADY GRADED A+ REAL EXAM
!!! REAL EXAM !!
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-Wiedema 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 - ----ANS---It is highly unlikely
you will be able to.
At birth, infants with Beckwith-Wiedemann syndrome (BWS) will exhibit the classic symptom of:
cleft palate.
hyperglycemia.
microsomia.
omphalocele. - ----ANS---omphalocele.
other symptoms include macroglossia and macrosomia
, may also exhibit enlarged organs, large placenta, and/or long umbilical cord, hypoglycemia, kidney
abnormalities, characteristics facies of midface hypoplasia and infraorbital creases and advanced bone
age
A 2-year-old child is a newly established patient. The mother explains that she has always taken the child
to an urgent care facility, but was urged by the facility to establish a medical home. The mother reports
that the child has a history of frequent otitis media and short stature. The exam reveals: ptosis with
down slanting palpebral fissures; low, posteriorly rotated ears; seven pigmented nevi; nuchal folds; and
short stature. The nurse practitioner decides to have the child genetically tested for:
Down syndrome.
Fetal alcohol syndrome.
Turner syndrome.
Beckwith-Wiedemann syndrome. - ----ANS---Turner syndrome.
An 18-month old girl is a newly established patient. The toddler has microcephaly, is happy, and flaps
her hands during the visit. She is delayed in developmental milestones. She is referred to genetics for
chromosomal testing to rule out:
autism.
Fragile X syndrome.
Turner syndrome.
Angelman syndrome. - ----ANS---Angelman syndrome.
A newborn presents with microcephaly, is small for gestational age, and has short palpebral fissures and
a long, smooth philtrum. The provider determines that the most likely diagnosis is:
Down syndrome.
fetal alcohol syndrome.
Turner syndrome.
Beckwith-Wiedemann syndrome. - ----ANS---fetal alcohol syndrome.
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
