Genetics

Question 1

Macrocephaly, large ears, prognathism, a high arched palate associated with what genetic condition?

Answer 1

Fragile x syndrome

Question 2

What genetic syndrome is the single most common form of inherited intellectual disability?

Answer 2

Fragile x syndrome

Question 3

What eye abnormalities are associated with Marfan syndrome?

Answer 3

Severe myopia, lens subluxation

Question 4

What are the most common congenital heart disease is associated with trust me 21?

Answer 4

AV canal defect as well as an ASD or VSD

Question 5

What inborn errors of metabolism typically present in newborn or early infancy?

Answer 5

Disorders of carbohydrate in protein metabolism as well as disorders of energy production

Question 6

What cardiac abnormalities are associated with fragile x syndrome?

Answer 6

Mitral valve prolapse, aortic dilation, pectus excavatum

Question 7

Where’s the mutation for marfan syndrome located?

Answer 7

Chromosome 15

Question 8

What is the mean survival rate for trisomy 18?

Answer 8

Males 58 days females 282 days

Question 9

Corneal opacity, optic disc coloboma, low set ears, micrognathia are characteristic of what genetic abnormality?

Answer 9

Trisomy 18

Question 10

Syndrome is characterized by a karyotype of XO?

Answer 10

Turner syndrome

Question 11

What errors of inborn metabolism typically present in liter infancy or childhood?

Answer 11

Disorders of fatty acid oxidation, glycogen storage and lysosomal storage

Question 12

Urge what gene mutation is the result of charge syndrome?

Answer 12

Mutation in the CDH7 gene autosomal dominant

Question 13

What genetic syndrome is the leading cause of death and blindness?

Answer 13

Charge syndrome

Question 14

What inborn errors of metabolism typically present in newborn or early infancy?

Answer 14

Disorders of carbohydrate in protein metabolism as well as disorders of energy production

Question 15

Neonatal lymphedema is associated with what genetic condition?

Answer 15

Turner syndrome

Question 16

Are people with Turner syndrome able to have children?

Answer 16

They developed no secondary sex characteristics

Question 17

What is the most common cardiac lesion associated with Turner syndrome?

Answer 17

Coarctation of the aorta

Question 18

Short stature, broadcast, wide-spaced nipples, short web neck are associated with what genetic syndrome?

Answer 18

Turner syndrome

Question 19

What does charge syndrome stand for?

Answer 19

C: coloboma of eye
H: heart defects
A: atresia of nasal choanae
R: retardation of growth and development
G: genital and or urinary abnormalities
E: ear abnormalities/deafness

Question 20

What genetic condition is associated with a horseshoe kidney or duplicated collecting systems?

Answer 20

Turner syndrome

Question 21

What are the cardiac abnormalities associated with Marfan syndrome?

Answer 21

Aortic dilation, mitral valve prolapse, dilation of main pulmonary artery

Question 22

What finding causes an increase risk of spinal cord injury and trust me 21?

Answer 22

Atlanta axial instability which is an increased mobility at first and second cervical vertebrae

Question 23

What congenital anomalies or syndromes are associated with polyhydramnios?

Answer 23

In encephaly, hydrocephalus, t e f, duodenal atresia, spina bifida, cleft lip/palette, achondroplasia, twice me18, TORCH, hydrops fetalis

Question 24

What genetic morality is associated with severe neurologic manifestations such as seizures developmental delay disturbance and cerebral development or meningomyeloceole?

Answer 24

Trisomy 18

Question 25

Multiple spontaneous pneumothoraxes should make you suspicious for what genetic condition?

Answer 25

Marfan syndrome

Question 26

What’s your next conditions associated with oligohydramnios?

Answer 26

Growth restriction compression syndrome such as clubfoot or pulmonary hypoplasia, twin to twin transfusion, renal agenesis, prune belly syndrome, chromosomal abnormalities such as trust me 21