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
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
3
Q
how is williams syndrome diagnosed
A
Diagnosis is made by FISH studies
