Investigation | Abnormalities identified (No of patients) | Contributing to a diagnosis (No of patients) |
---|---|---|
Patient clinical history | 13 | 5 |
Family history | 12 | 1 |
Physical examination | 20 | 7 |
Karyotype | 2 | 2 |
FISH subtelomeric regions | 0 | 0 |
FISH DiGeorge region | 0 | 0 |
Densitometry 15q11-13 region | 6 | 0 |
Real time PCR 15q11-13 region | 0 | 0 |
Fragile X screening | 0 | 0 |
MECP2 mutation screening | 1 | 0 |
Metabolic screening | 2 | 1 |
EEG | 8 | 2 |
Neuroimaging | 2 | 2 |
Opthalmological investigations | 4 | 1 |
ENT investigations | 6 | 0 |