williams syndrome Flashcards

1
Q

what is williams syndrome

A

William’s syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7

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2
Q

features of williams syndrome

A

elfin-like facies
characteristic like affect - very friendly and social
learning difficulties
short stature
transient neonatal hypercalcaemia
supravalvular aortic stenosis

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3
Q

how is williams syndrome diagnosed

A

Diagnosis is made by FISH studies

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