Table 3.
Summary of mosaic rearrangements
| Case/control | Rearrangement | Cytoband1 | Chr | Start | Stop | Size (Mb) | Clonality | Validation |
|---|---|---|---|---|---|---|---|---|
| Control | Deletion | 5q14.1‐q33.1 | 5 | 82,926,332 | 151,852,840 | 68.93 | 59% | MLPA |
| Control | UPD | 20q11.23‐q13.33 | 20 | 36,224,534 | 62,912,463 | 26.69 | 17% | n.d. |
| Control | Duplication | 20q11.21‐q13.13 | 20 | 30,691,943 | 49,777,691 | 19.09 | 29% | n.d. |
| Control | Deletion | 2p24.1‐p23.3 | 2 | 23,298,851 | 25,421,803 | 2.12 | 57% | n.d. |
| Case | Trisomy | 12p13.33‐q24.33 | 12 | 0 | 133,851,895 | 133.85 | 15% | n.d. |
| Case | UPD | 17p13.3‐p11.2 | 17 | 6,689 | 17,344,122 | 17.34 | 36% | MS |
| Case | UPD | 11p15.5‐p15.1 | 11 | 198,510 | 21,002,580 | 20.80 | 30% | MS |
| Case | Deletion | 13q14.2‐q14.3 | 13 | 50,394,625 | 51,461,086 | 1.07 | 40% | MLPA |
| Case | Deletion | 10q22.3‐q23.2 | 10 | 81,685,024 | 89,167,880 | 7.48 | 49% | MLPA |
| Case | UPD | 5q14.3‐q23.1 | 5 | 89,863,279 | 120,267,945 | 30.40 | 12% | n.d. |
| Case | UPD | 9p24.3‐p24.1 | 9 | 46,587 | 5,731,315 | 5.68 | 14% | n.d. |
| Case | Deletion | 1q21.1‐q21.2 | 1 | 144,988,936 | 147,823,776 | 2.83 | 28% | n.d. |
| Case | Deletion | 18p11.21 | 18 | 12,033,735 | 14,920,039 | 2.89 | 23% | n.d. |
1
Cytobands and genomic coordinates according to genome build GRCh37/hg19.
Abbreviations: MLPA, multiplex ligation‐dependent probe amplification analysis; MS, microsatellite analysis; n.d., not determined.