autosomal chromosomal disorders

Question 1

2nd tri quad screen: ↓ AFP, ↑bHCG, ↓estriol,↑ inhibin A

Answer 1

trisomy 21

Question 2

2nd tri quad screen: ↓AFP, ↓bHCG, ↓estriol, normal inhibin A

Answer 2

trisomy 18 (edwards syndrome)

Question 3

1st trimester screen (not quad): ↓bHCG, ↓PAPP-A, ↑nuchal translucency

Answer 3

trisomy 13 (Patau syndrome)

Question 4

conditions with ↑ nuchal translucency (seen in 1st trimester ultrasound)

Answer 4

trisomy 21
trisomy 13
Turner syndrome

Question 5

high pitched crying and mewing

Answer 5

Cri-du-chat syndrome

“cry of the cat”

Question 6

microdeletion of long arm of chromosome 7 (includes elastin gene)

Answer 6

williams syndrome

Question 7

“elfin” facies, hypercalcemia (↑ sensitivity to vitamin D), friendly to strangers, ID, valvular defect

Answer 7

williams syndrome

WILL ferrell: ELF

Question 8

22q11 microdeletion presentation

Answer 8

CATCH-22
Cleft palate
Abnormal facies
Thymic aplasia → T cell deficiency → lung + viral infections
Cardiac defects
Hypocalcemia secondary to parathyroid hypoplasia → tetany

Question 9

types of 22q11 microdeletions

Answer 9

DiGeorge syndrome

Velocardiofacial syndrome

Question 10

thymic aplasia + PTH hypoplasia + CV defects

Answer 10

DiGeorge syndrome: due to 22q11 deletion

Question 11

palate + facial + CV defects

Answer 11

velocardiofacial syndrome: due to 22q11 deletion

Question 12

aberrant development of 3 + 4th branchial pouches caused by

Answer 12

22q11 deletion:
DiGeorge syndrome
Velocardiofacial syndrome

Question 13

most common overall cause of intellectual disability (not congenital)

Answer 13

fetal alcohol syndrome

Question 14

most common viable chromosomal abnormality

Answer 14

trisomy 21

Question 15

most common cause of congenital (genetic) intellectual disability

Answer 15

trisomy 21

Question 16

2nd most common congenital cause of intellectual disability

Answer 16

fragile X syndrome

Question 17

intellectual disability
flat facies
epicanthal folds
semian crease
gap between 1st and 2nd toes
duodenal atresia
endocardial cushion defects: ASD, VSD, abnormality in connection of all 4 chambers, abnormal connection between atria + ventricles
polycythemia

Answer 17

trisomy 21

Question 18

trisomy 21 have a ↑ risk of the following diseases

Answer 18

↑↑ALL (ALL fall DOWN)
↑AML
↑AD

Question 19

severe ID
rocker bottom feet
micrognathia
low set ears
clenched hands
prominent occiput
death within 1 year

Answer 19

trisomy 18 (edwards syndrome)

Question 20

severe ID
rocker bottom feet
microcephaly
holoprosencephaly (one eye - defect in SHH gene)
cleft lip/palate
polydactyly
death within 1 year

Answer 20

trisomy 13 (patau syndrome)