Uniparental disomy of 11p15 | Paternal | 10–20% | Maternal | – (0/46)2 |
Structural chromosomal | Paternal duplications | 1% | Maternal duplications | 4% (2/46)2 |
rearrangements of 11p15 | Inversions/translocations | 1% | | |
In telomeric 11p15 | Hypermethylation of H19 | 2% | Hypomethylation of ICR1 | 31–55%‡,3 (16/51, 5/9) |
imprinting domain | Loss of imprinting of IGF2 | 25–50% | | |
In centromeric 11p15 | Mutations in CDKN1C | 5–10% sporadic | Mutations in CDKN1C | –6 |
imprinting domain | | 25% aut. dominant | | |
| Hypomethylation of KvDMR1 | 50% | Hypermethylation of KvDMR1 | –‡3 |
Others | | | Maternal UPD7/duplications in 7p | 10% |
| Unknown | 10–20% | Unknown | 45–69% |