Table 3 of
Souzeau, Mol Vis 2018; 24:261-273. Table 3 of
Souzeau, Mol Vis 2018; 24:261-273.
Table 3. 11p13 deletions identified in probands.
| Proband ID | Method | Deletion (hg19) | Comments |
|---|---|---|---|
| 3a | MLPA | c.(?_858)_(1207_?)del | Deletion of exons 14 & 15 of PAX6 |
| 5 | MLPA+SNP array | 31,742,816–31,838,768 | 96kb deletion involving PAX6 in mosaic |
| 7 | Karyotype+MLPA | del11(p13-p15) | Deletion involving PAX6, WT1 and BDNF |
| 13 | MLPA+SNP array | 31,225,707–31,705,767 | 480kb deletion distal of PAX6 |
| 16 | MLPA+SNP array | 31,488,890–32,249,249 | 795kb deletion involving PAX6 |
| 18 | MLPA+SNP array | 31,530,678–32,033,826 | 503kb deletion involving PAX6 |