Table 1.
Summary of the molecular findings obtained by MS MLPA approaches in routine diagnostic cohorts of patients referred for SRS and BWS testing. Data from the cohorts ascertained from 2014 to 2020 (new data) are compiled with those from a previous study [12]. (Publications on specific molecular alterations and cases are indicated: a [13], b [10], c [14], d [15], e [16], f [17], g [18]) (total numbers are given in parentheses)
| Molecular finding | SRS | BWS | ||||
|---|---|---|---|---|---|---|
| This study | Previous study | Total (%) | This study | Previous study | Total (%) | |
| IC1 LOM | 69.8% (74) | 68.4% (78) | 69.1 | 2.9% (3a) | 2.1 | |
| IC1 GOM | 12.6% (13) | 5.0% (2) | 10.5 | |||
| IC2 LOM | 2.8% (3a) | 1.4 | 37.9% (39) | 45.0.0% (20) | 41.3 | |
| MLID | 1.8% (2b) | 5.3% (6) | 3.6 | 11.7% (12b) | 15% (5) | 11.9 |
| upd(11)pat | 28.2% (29) | 22.5% (9) | 26.6 | |||
| uniparental diploidy | 1.9% (2c) | 5.0% (2) | 2.8 | |||
| upd(7)mat | 14.1% (15) | 17.5% (20) | 15.9 | |||
| upd(6)mat | 0.9% (1d) | 0.9% (1) | 0.9 | |||
| 14q32 alterations | 6.6% (7) | 1.8% (2) | 4.1 | |||
| 11p15.5 CNVs | 2.8% (3e) | 4.4% (5) | 3.6 | 4.9% (5f) | 5.0% (2) | 4.9 |
| chromosome 7 alterations | 0.9% (1g) | 1.8% (2) | 1.4 | |||
| Total number of aberrant findings | 106 | 114 | 220 | 103 | 40 | 143 |
| Total number of tests | 502 | 571 | 1073 | 235 | 140 | 375 |
| Detection rate | 21.0% | 19.9% | 20.5 | 43.8% | 28.6% | 38.1 |