autosomal chromosomal disorders Flashcards Preview

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Flashcards in autosomal chromosomal disorders Deck (20):
1

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

trisomy 21

2

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

trisomy 18 (edwards syndrome)

3

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

trisomy 13 (Patau syndrome)

4

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

trisomy 21
trisomy 13
Turner syndrome

5

high pitched crying and mewing

Cri-du-chat syndrome
"cry of the cat"

6

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

williams syndrome

7

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

williams syndrome

WILL ferrell: ELF

8

22q11 microdeletion presentation

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

9

types of 22q11 microdeletions

DiGeorge syndrome
Velocardiofacial syndrome

10

thymic aplasia + PTH hypoplasia + CV defects

DiGeorge syndrome: due to 22q11 deletion

11

palate + facial + CV defects

velocardiofacial syndrome: due to 22q11 deletion

12

aberrant development of 3 + 4th branchial pouches caused by

22q11 deletion:
DiGeorge syndrome
Velocardiofacial syndrome

13

most common overall cause of intellectual disability (not congenital)

fetal alcohol syndrome

14

most common viable chromosomal abnormality

trisomy 21

15

most common cause of congenital (genetic) intellectual disability

trisomy 21

16

2nd most common congenital cause of intellectual disability

fragile X syndrome

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

trisomy 21

18

trisomy 21 have a ↑ risk of the following diseases

↑↑ALL (ALL fall DOWN)
↑AML
↑AD

19

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

trisomy 18 (edwards syndrome)

20

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

trisomy 13 (patau syndrome)

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