Williams syndrome Flashcards
1
Q
Chromosome abnormality
A
Microdeletion chromosome 7
2
Q
What type of disorder is William’s?
A
Neurodevelopmental
3
Q
Clinical features
A
elfin-like facies
characteristic like affect - very friendly and social
learning difficulties
short stature
transient neonatal hypercalcaemia
supravalvular aortic stenosis
4
Q
What investigation is useful to diagnose Williams disorder
A
FISH studies
5
Q
A
