Table 1.
Patients with de novo deletions of 11p13 region.
| Patient’s ID | Break Points Coordinates According to 11p13 MLPA | Genes Affected by Deletion | Origin 1 |
|---|---|---|---|
| A-25 | chr11:31824328–31832887 | PAX6ex1–PAX6ex5 | nd |
| A-36 | chr11:31671656–32339851 | ELP4ex9–PAX6–RCN1 | pat |
| A-30 | chr11:27679822–33374888 | BNDF−FSHB−DCDC1−ELP4–PAX6−RCN1−WT1−HIPK3 | pat |
| 52.03 | chr11:27679822–35160813 | BNDF−FSHB−DCDC1−ELP4–PAX6−RCN1−WT1−HIPK3−LMO2−EHF−CD44 | pat |
| 20.03 | chr11:30253552–32457265 | FSHB–DCDC1−ELP4−PAX6–RCN1−WT1 | pat |
| 02.12 | chr11:31329311–31671656 | DCDC1−ELP4ex9 | pat |
| 09.03 | chr11:31329311–31671656 | DCDC1−ELP4ex9 | nd |
| 04.14 | chr11:31391209–31838055 | DCDC1ex1−ELP4−PAX6int1 | mat |
| 36.03 | chr11:30253552–32125308 | PAX6ex7−RCN1 | pat |
| A-26 | chr11:31329311–32339851 | DCDC1-ELP–PAX6–RCN1 | pat |
1 Note: nd: the origin cannot be defined, pat: paternal, mat: maternal origin.