Assessment of the performance of the three clinical scoring systems on our cohort of 69 patients
| Likely SRS (according to each system) | Unlikely SRS (according to each system) | Excluded Subjects (due to insufficient data) | Number of patients carrying 11p15 ICR1 hypomethylation or mUPD7 classified by each system as “Likely RSS” | Number of patients carrying 11p15 ICR1 hypomethylation or mUPD7 classified by each system as “Unlikely RSS” | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 11p15 ICR1 hypomethylation | mUPD7 | L-SRS-dblneg | Total Likely-SRS | 11p15 ICR1 hypomethylation | mUPD7 | UL-SRS-dblneg | Total Unlikely-SRS | |||||
| SCORING SYSTEM | Scoring system requirements | |||||||||||
| N-H CSS | 6-factor system: 4 or more=likely SRS | 35 (100%) | 11 (91.7%) | 14 | 60 | 0 | 1 (8.3%) | 8 | 9 | 0 | 46 of 47 (97.9%) | 1 of 47 (2.13%) |
| Netchine et al9 | SGA mandatory+5-factor system: 3 or more=likely SRS | 35 (100%) | 8 (66.7%) | 12 | 55 | 0 | 4 (33.3%) | 10 | 14 | 0 | 43 of 47 (91.5%) | 4 of 47 (8.51%) |
| Birmingham | 4-factor system: 3 or more=likely SRS | 30 (93.7%) | 6 (54.5%) | 11 | 47 | 2 (6.3%) | 5 (45.5%) | 9 | 16 | 6 (3 11p15 ICR1 hypomethylation, 1 mUPD7 and 2 dblneg (1 L-SRS and 1 UL-SRS)) | 36 of 47 (76.6%) & 4 others were excluded due to missing data | 7 of 47 (14.89%) |
SRS, Silver-Russell syndrome; mUPD; maternal UPD of chromosome 7; NH-CSS, Netchine-Harbison clinical scoring system; SGA, small for gestational age.