Yield of investigations performed in all 25 patients
| 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 |