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 |