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Flashcards in Microdeletion syndromes Deck (12):
1

List the 4 microdeletion syndromes

1. DiGeorge

2. Velocardiofacial syndrome

3. Cri-du-chat

4. Williams

2

What causes cri-du-chat?

Microdeletion of short arm of chromosome 5

3

What causes Williams syndrome?

Microdeletion of long arm on chromosome 7, which includes elastin gene

4

What are the 22q11 deletion syndromes?

DiGeorge

Velocardiofacial syndrome

5

46 X,Y/X,X -5p

Cri-du-chat

6

Hypercalcemia + well-developed verbal skills + cardiac defects + "elfin" facies + intellectual diasbility

Williams syndrome

7

Thymic aplasia + parathyroid aplasia + cardiac defects

DiGeorge

8

Microcephaly + severe intellectual disability + high-pitched crying + VSD + epicanthal folds

Cri-du-chat

9

DiGeorge and velocardiofacial syndromes are due to abnormal development of:

3rd and 4th pharyngeal pouches

10

What causes the hypercalcemia in Williams syndrome?

Sensitivity to vitamin D

11

Extreme friendliness with strangers

Williams syndrome (microdeletion of long arm of chromosome 7)

12

Cleft lip/palata + cardiac defects + abnormal facies

Velocardiofacial syndrome