Comparison of genetic alterations and their frequencies in BWS and SRS
| Type of mutation | BWS* | SRS† | ||
|---|---|---|---|---|
| *Frequencies are derived from Weksberg et al8; †superscript numbers in the last column are references; ‡present study. | ||||
| 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% | |