Rita's Genetic Questions Flashcards
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
b) macro-orchidism
- -> abnormally large testes
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
b) hypotonia, large appearing tongue and small mouth, upward slant to eyes
- -microcephaly, large ears and mouth, flattened philtrum
- -> fetal alcohol syndrome
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
d) recheck and replot the child’s HC
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
c) fetal alcohol syndrome
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
a) Fragile X
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
c) Pectus excavatum requiring surgery
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
b) latex allergy
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
b) coarctation of the aorta
- -> Turner’s!!
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
d) thyroid screening
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
c) Edwards syndrome
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
b) sleep obstructive apnea
- -> huge tonsils
Hurler’s syndrome = mucopolysaccharidosis
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
c) hypotonia in the first few weeks of life
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
c) MRI of the head
- -> recommended test of choice for CP
What hormone needs replacement in adolescents with Klinefelter’s syndrome?
a) thyroid hormone
b) growth hormone
c) estrogen
d) testosterone
d) testosterone
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
b) refer to a pediatrician
- -> Tay Sach’s
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
a) Karyotype
- -> if microarray available, even better
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
a) referral to genetics for further evaluation
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
a) the Stanford Binet IQ test
- -> want to r/o mental challenges
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
a) Raise the issue of a genetic referral
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
a) Fragile X
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
c) Prader Willi syndrome
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
b) Neurofibromatosis
Poland syndrome
–> absence of pectoralis muscle of chest
Which is a sx of Prader Willi syndrome in infancy?
a) large testicles
b) increased appetite
c) slow weight gain
d) normal intelligence
c) slow weight gain
Which of the following do you need to screen a Down Syndrome patient for?
a) pulmonary function tests
b) hypothyroidism
c) renal function
b) hypothyroidism
What is the most common genetic phenotype of a patient with Klinefelter’s syndrome?
a) XY
b) XXY
c) XYY
d) XXXXY
b) XXY
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
b) less muscular than other boys
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
a) cystic fibrosis
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
b) cervical spine
You suspect that a 2yo male has muscular dystrophy. What lab is increased in muscular dystrophy?
a) CK
b) ALT
c) LDH
d) SGPT
a) CK
Which of the following exam findings are consistent with fetal alcohol syndrome?
a) microcephaly
b) upward slanting eyes
c) well-developed philtrum
a) microcephaly
Where do you need to refer a patient with Mardan’s syndrome?
a) ophthalmology
b) neurology
c) urology
d) pulmonology
a) ophthalmology
