Table 2 of
Wicher, Mol Vis 2025; 31:267-274. Table 2 of
Wicher, Mol Vis 2025; 31:267-274.
Table 2. Copy number variations (CNVs) in RB patients from literature and in our cohort.
| Various | Akdeniz 2023 [14] | Albrecht 2005 [15] | Kugalingam 2023 [17] | Lan 2020 [18] | Mendonça 2022 [19] | Taylor 2007 [20] | Our cohort |
|---|---|---|---|---|---|---|---|
| Patients information | |||||||
| Pts tested for CNV | 136 | 129 | 31 | 117 | 159 | 165 | 228 |
| Bil. / trilat. | 47 / 3 | 57 | 6 | - | 39 | 102 | 86 |
| Unilateral | 84 | 72 | 25 | - | 117 | 21 | 142 |
| CNV statistics | |||||||
| All CNV | 13 | 32 | 4 | 12 | 19 | 19 | 19* |
| CNV in affected (%) | 12/136 (8.8) | 32/129 (24.8) | 4/31 (12.9) | 12/117 (10.3) | 19/159 (11.9) | 18/128 (14.1) | 19*/228 (8.3) |
| CNV / all alterations (%) | 13/57 (22.8) | - | 4/49 (8.2) | 12/75 (16.0) | - | 19/165 (11.5) | 19*/102 (18.6) |
| Type of CNV | |||||||
| WGD (%) | 5 (38.5) | 14 (43.8) | 1 (25) | 5 (41.7) | 10 (52.6) | 4 (21.1) | 6 (31.6) |
| PGD (%) | 7 (53.8) | 17 (53.1) | 2 (50) | 6 (50) | 8 (42.1) | 15 (78.9) | 10 (52.6) |
| Duplicat. (%) | 1 (7.7) ex 4–17 | 1 (3.1) ex 1–2 | 1 (25) ex 27 | 1 (8.3) ex 3–5 | 1 (5.3) ex 12–17 | - | 2 (10.5) ex 3–17 |
| Laterality in CNV patients | |||||||
| Unilateral | 5 | 6 | - | 2 | 5 | 1 | 7 |
| Bil. / trilat. | 6 / 1 | 26 | - | 10 | 13 / 1 | 15 | 12 |