Rita's Genetic Questions

Question 1

Which of the following is a characteristic physical signs of Fragile X syndrome in adolescent males?

a) small posteriorly rotated ears
b) macro-orchidism
c) hypertonia
d) double hair whirl

Answer 1

b) macro-orchidism

- -> abnormally large testes

Question 2

Which of the following physical stigmata are common in newborns with Down syndrome?

a) microcephaly, large ears and mouth, flattened philtrum
b) hypotonia, large appearing tongue and small mouth, upward slant to eyes
c) fair mottled skin, large hands and feet, broad stocky neck
d) funnel or pigeon-shaped chest, Brushfield spots, extra digits

Answer 2

b) hypotonia, large appearing tongue and small mouth, upward slant to eyes

• -microcephaly, large ears and mouth, flattened philtrum
  
  • -> fetal alcohol syndrome

Question 3

A 2 month old infant, with a hx of sacral myelomeningocele repair has an increase in HC from the 75th to the 95th percentile. What is the most appropriate first action?

a) order a head CT scan stat
b) refer to neurosurgery for tx
c) recheck it at the next well-child visit
d) recheck and replot the child’s HC

Answer 3

d) recheck and replot the child’s HC

Question 4

A child presents with a flattened philtrum, thin upper lip, micrognathia, strabismus, and a VSD. What is the most likely dx?

a) congenital toxoplasmosis
b) congenital syphilis
c) fetal alcohol syndrome
d) edwards syndrome

Answer 4

c) fetal alcohol syndrome

Question 5

A 5yo female presents for a school physical with a complaint of hyperactivity, a mild developmental delay, aversion of gaze, hand mannerism, long thin face with a slightly dysmorphic ear. What is the most likely dx?

a) Fragile X
b) Turner’s syndrome
c) Fetal alcohol syndrome
d) William’s syndrome

Answer 5

a) Fragile X

Question 6

Which of the following PE findings is a major criterion for identifying a patient with Marfan syndrome?

a) Brushfield spots
b) Shield chest with wide spaced nipples
c) Pectus excavatum requiring surgery
d) Large testicles

Answer 6

c) Pectus excavatum requiring surgery

Question 7

Which of the following is found more commonly in children with a meningomyelocele?

a) congenital heart disease
b) latex allergy
c) intestinal malformations
d) cleft palate

Answer 7

b) latex allergy

Question 8

A 2yo female has lymphedema of the hands and foot, with low posterior hairline, cubitus valgus, and a hx of intrauterine growth retardation. Which of the following defects is the most common among the children with this genetic syndrome?

a) aortic valve stenosis
b) coarctation of the aorta
c) mitral valve prolapse
d) dissecting aortic aneurysm

Answer 8

b) coarctation of the aorta

- -> Turner’s!!

Question 9

Which of the following screenings is done annually on a 4yo child with Down syndrome?

a) Cervical spine
b) Urinalysis
c) celiac screening
d) thyroid screening

Answer 9

d) thyroid screening

Question 10

A newborn presents with a large VSD, rocker bottom feet, overlapping second and third fingers, and fourth and fifth fingers with hypotonia. What is the most likely dx?

a) Fragile x syndrome
b) Down syndrome
c) Edwards syndrome
d) Klinefelter’s syndrome

Answer 10

c) Edwards syndrome

Question 11

Which of the following problems is common in a child with Hurler’s syndrome?

a) developmental delay from birth
b) sleep obstructive apnea
c) ectopic lentis
d) congenital heart disease

Answer 11

b) sleep obstructive apnea
- -> huge tonsils

Hurler’s syndrome = mucopolysaccharidosis

Question 12

What is an expected finding in young infants with cerebral palsy (CP)?

a) voracious appetite and weight gain
b) hepatosplenomegaly
c) hypotonia in the first few weeks of life
d) unusually severe reactions to their first immunizations

Answer 12

c) hypotonia in the first few weeks of life

Question 13

A 6yo has +4 reflexes, toe walking, and a clumsy gait. Which of the following diagnostic testing would be helpful in making a dx of cerebral palsy?

a) skull xray
b) CT of the head
c) MRI of the head
d) MRI of the lumbosacral spine

Answer 13

c) MRI of the head

- -> recommended test of choice for CP

Question 14

What hormone needs replacement in adolescents with Klinefelter’s syndrome?

a) thyroid hormone
b) growth hormone
c) estrogen
d) testosterone

Answer 14

d) testosterone

Question 15

A 9 month old child of Jewish parents presents with increasing irritability, and noise sensitivity. What is the next best step?

a) encourage mom to decrease environmental stimuli
b) refer to a pediatrician
c) refer for further developmental screening
d) re-evaluate at the 12 month examination

Answer 15

b) refer to a pediatrician

- -> Tay Sach’s

Question 16

A newborn presents with mceocephaly, low set ears, prominent occiput, micrognathia, heart murmur, and clenched hands with over-riding fingers and crossed thumb. What is the best diagnostic test?

a) Karyotype
b) amino acid urine screen
c) newborn screening
d) methylation test

Answer 16

a) Karyotype

- -> if microarray available, even better

Question 17

A 2 1/2yo presents with macrocephaly, developmental delay, coarse facial features, large tongue, kyphosis, hip dislocation, tonsillar and adenoidal hypertrophy, and hepatomegaly. She is receiving EI services w/out improvement. What is the next best step?

a) referral to genetics for further evaluation
b) f/u in 3 months
c) reassure the parents
d) f/u in 6 months

Answer 17

a) referral to genetics for further evaluation

Question 18

A 5yo child born at 28 weeks gestation has mild spastic diplegia. Which evaluations are impt before the child is placed in regular kindergarten?

a) the Stanford Binet IQ test
b) Carey Scale of temperament
c) CBC with diff
d) chromosome studies

Answer 18

a) the Stanford Binet IQ test

- -> want to r/o mental challenges

Question 19

A mother with Marfan syndrome comes with her 5yo for a checkup. The child has myopia and a positive wrist and thumb sign. She reports that she was told by her last HCP not to worry about this child. What is the next best step?

a) Raise the issue of a genetic referral
b) reassure her
c) follow the child for further signs of Marfan Syndrome
d) refer to ophthalmology

Answer 19

a) Raise the issue of a genetic referral

Question 20

A 5yo female presents for a school physical with a complaint of hyperactivity, a mild developmental delay, aversion of gaze, hand mannerism, long thin face with a slightly dysmorphic ear. What is the most likely dx?

a) Fragile X
b) Marfan’s syndrome
c) Fetal alcohol syndrome
d) William’s syndrome

Answer 20

a) Fragile X

Question 21

Which of the following is a possible differential dx for a morbidly obese 4yo with a developmental delay?

a) Leptin deficiency
b) Marfan’s syndrome
c) Prader Willi syndrome
d) Turner’s syndrome

Answer 21

c) Prader Willi syndrome

Question 22

A child has a large nevus flammeous on the left side of his face. What is the most likely dx?

a) Poland syndrome
b) Neurofibromatosis
c) Tuberous Sclerosis
d) Sturge Weber syndrome

Answer 22

b) Neurofibromatosis

Poland syndrome
–> absence of pectoralis muscle of chest

Question 23

Which is a sx of Prader Willi syndrome in infancy?

a) large testicles
b) increased appetite
c) slow weight gain
d) normal intelligence

Answer 23

c) slow weight gain

Question 24

Which of the following do you need to screen a Down Syndrome patient for?

a) pulmonary function tests
b) hypothyroidism
c) renal function

Answer 24

b) hypothyroidism

Question 25

What is the most common genetic phenotype of a patient with Klinefelter’s syndrome?

a) XY
b) XXY
c) XYY
d) XXXXY

Answer 25

b) XXY

Question 26

Which of the following is true about Klinefelter’s patients?

a) more facial and body hair
b) less muscular than other boys
c) gregarious and social
d) very talkative

Answer 26

b) less muscular than other boys

Question 27

A 10 month old presents with bulky stools and FTT. Which of the following would be the most likely differential dx?

a) cystic fibrosis
b) alpha 1 antitrypsin deficiency
c) cow’s milk protein allergy

Answer 27

a) cystic fibrosis

Question 28

You are clearing a 12yo with Down Syndrome for the special olympics. What test do you need to order?

a) echocardiogram
b) cervical spine
c) CBC with diff
d) urinalysis

Answer 28

b) cervical spine

Question 29

You suspect that a 2yo male has muscular dystrophy. What lab is increased in muscular dystrophy?

a) CK
b) ALT
c) LDH
d) SGPT

Answer 29

a) CK

Question 30

Which of the following exam findings are consistent with fetal alcohol syndrome?

a) microcephaly
b) upward slanting eyes
c) well-developed philtrum

Answer 30

a) microcephaly

Question 31

Where do you need to refer a patient with Mardan’s syndrome?

a) ophthalmology
b) neurology
c) urology
d) pulmonology

Answer 31

a) ophthalmology