Table 2.
Patients with UPD
| Patient number | Mechanism | Chromosome | Size of isodisomic region | Number of SNPs in isodisomic region | Mosaic % by array | Maternal/paternal UPD | Mitosis/Meiosis | UPD validation | Tissue |
|---|---|---|---|---|---|---|---|---|---|
| 22 | Monosomy rescue | chr14 | 88 252 956 | 19 213 | 100 | Paternal | MI or MII | Yes | Blood |
| 23 | Monosomy rescue | chr15 | 81 794 197 | 16 625 | 100 | Paternal | MI or MII | Yes | Blood |
| 24 | Segmental | chr11 | 45 296 182 | 10 755 | 10 | Mitosis | Skin | ||
| 45 296 182 | 10 755 | 30 | Mitosis | Pancreas | |||||
| 25 | Segmental | chr11 | 12 430 186 | 3580 | 10 | Mitosis | Blood | ||
| 26 | Trisomy rescue | chr2 | 107 225 556 | 20 727 | 100 | MI | Blood | ||
| 27 | Trisomy rescue | chr16 | 15 991 615 | 4202 | 100 | MI | Blood | ||
| 27 894 431 | 6970 | 100 | MI | Blood | |||||
| 28 | Trisomy rescue | chr14 | 21 117 384 | 4693 | 100 | MI | Blood | ||
| 29 | Trisomy rescue | chr15 | 5 911 145 | 877 | 100 | Maternal | MII | Blood | |
| 52 922 495 | 10 813 | 100 | Maternal | MII | Blood |