| Genetic abnormality |
Percentage in AS cases |
| Maternal deletion of 15q11-13 (De novo) |
~70% |
| Paternal UPD |
2-5% |
| Imprinting defects |
2-5% |
| Mutations/variants of UBE3A gene |
~5-10 % |
| Other causes unidentified |
~10 % |
|
| Note: According to a report by Ramsden et al. 2010, and also based on the data from the public database Decipher (https://decipher.sanger.ac.uk). |
| Table 1: Ascertained genetic abnormalities in AS*. |
