Table 2.
Summary of the microdeletions/microduplications
| Patient | Sex | Deletion duplication | Rearrangement size (Kb) | Exons involved | Parental origin | Parental phenotype | Additional CNVs |
|---|---|---|---|---|---|---|---|
| Patient 1 |
F |
Chr7:110.879.166_111.149.166 del |
270 |
3 |
Paternal |
Unaffected |
|
| Patient 2 |
M |
Chr7:111.066.736_111.201.968 del |
153 |
1, 2, 3 |
Paternal |
Unaffected |
|
| Patient 3 |
M |
Chr7:111.066.736_111.316.651 del |
250 |
1, 2, 3 |
Paternal |
Unaffected |
|
| Patient 4 | M | Chr7:110.135.083_110.505.806 dup | 308 | 6 | Paternal | Unaffected | Chr7:4.785.596_4.956.419 dup 171 Kb, maternal duplication which includes FOXK1, AP5Z1, RADIL, PAPOLB, MMD2 |