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genetics > William syndrome > Flashcards

William syndrome Flashcards

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Biology 101 flashcards
1
Q

caused by

A

deletion of genetic material on one copy chromosome 7

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2
Q

inheritance

A

usually result of random deletion

rather than being inherited from affected parent

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3
Q

features

A 
broad forehead
starburst eyes
flattened nasal birdge 
sociable, trusting personality 
LD
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4
Q

distinctive features

A

very sociable personality
starburst eyes
wide mouth with big smile

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5
Q

assoc conditins

A

supravalvular aortid stenosis
hypercalcaemia

also htn + ADHD

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6
Q

Mx

A 
MDT input 
ECHO 
BP monitoring 
low calcium diet
avoid calcium and vitD supplemennts
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genetics (15 decks)

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