Table 2 Frequencies of the different types of (epi)mutations in SRS
From: Silver-Russell syndrome: genetic basis and molecular genetic testing
Type of (Epi)mutation | Frequency in SRS |
|---|---|
11p15: ICR1 hypomethylation | ~40% |
UPD(7)mat | ~10% |
11p15 duplications of maternal material | 1-2% |
further chromosomal aberrations | ~1% |