Table 1.
Summary of 62 PTLS-associated duplications with duplication information, mutational mechanisms, parent-of-origins and rearrangement patterns
| Subject | Size (Mb)a | CGH/SNP array | Type | Breakpoint | Reference | Mechanism | Reference | P/M, inter/intra | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 504 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, inter | (10) |
| 527 | 10.4 | BAC, Oligo | SNR | One LCR | (10,17) | NHEJ/RMs | (17) | M, intra | (10) |
| 563 | 5.6 | BAC, Oligo | CNR | Microhomologies CCTC, CTCCC | (10,13) | RMs | (13) | P | (10) |
| 621 | 15.5 | BAC, Oligo | CNR | Microhomologies CC, TTGGT | (10,13) | RMs | (13) | M | (10) |
| 990 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, inter | (10) |
| 1006 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, intra | (10) |
| 1192 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P. inter | (10) |
| 1229 | 6.4 | BAC, Oligo, Omni-1 | CNR | Microhomology ACCTTC, one LCR | (10,13), TS | RMs | (13) | P, intra | (10) |
| 1251 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, intra | (10) |
| 1353 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, inter | (10) |
| 1364 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, intra | (10) |
| 1458 | 7.6 | BAC, Oligo | CNR | One LCR | (10,13) | RMs | (13) | M, intra | (10) |
| 1579 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, inter | (10) |
| 1618 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, inter | (10) |
| 1632 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, inter | (10) |
| 1671 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, intra | (10) |
| 1786 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, intra | (10) |
| 1789 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, intra | (10) |
| 1838 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, intra | (10) |
| 1861 | 7.7 | BAC, Oligo | SNR | One LCR | (10,13) | NHEJ/RMs | (13) | M, intra | (10) |
| 1913 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, intra | (10) |
| 2153 | 3.7 | BAC, Oligo | CR | Paired LCRs | (10,13) | NAHR | (13) | P, inter | (10) |
| 2167 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P | (10) |
| 2211 | 8.7 | BAC, Oligo | CNR | One LCR | (10,13) | RMs | (13) | M, intra | (10) |
| 2306 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, inter | (10) |
| 2337 | 5.9 | BAC, Oligo | CNR | NA | (10,13) | RMs | (13) | M, intra | (10) |
| 2440 | 4.9 | BAC, Oligo | SNR | One LCR | (10,13) | NHEJ/RMs | (13) | P, inter | (10) |
| 2488 | 7.5 | BAC, Oligo | SNR | One LCR | (10,13) | NHEJ/RMs | (13) | M, intra | (10) |
| 2543 | 1.5 | BAC, Oligo | SNR | One LCR | (10,13) | NHEJ/RMs | (13) | M, inter | (10) |
| 2555 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | M, inter | (10) |
| 2571 | 3.7 | BAC | CR | Paired LCRs | (10) | NAHR | (10) | P, inter | (10) |
| 2578 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | P, inter | TS |
| 2581 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | P, inter | TS |
| 2592 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2597 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | Inter | TS |
| 2634 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | Inter | TS |
| 2659 | 3.7 | Oligo | CR | Paired LCRs | (18) | NAHR | (18) | M, inter | (18) |
| 2660 | 3.7 | Oligo | CR | Paired LCRs | (18) | NAHR | (18) | P, inter | (18) |
| 2661 | 11.1 | Oligo | SNR | Microhomology AT | (13) | NHEJ/RMs | (13) | M, intra | (18) |
| 2671 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | Inter | TS |
| 2692 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | Inter | TS |
| 2695 | 4.4 | Oligo, Omni-1 | CNR | Two AluYs, one LCR | (13), TS | RMs | (13) | P, inter | TS |
| 2708 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2711 | 11.3 | Oligo, Omni-1 | CNR | One LCR | (13), TS | RMs | (13) | M, intra | TS |
| 2724 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | P, intra | TS |
| 2728 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2745 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, intra | TS |
| 2748 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | Inter | TS |
| 2758 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | P, inter | TS |
| 2767 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | P, inter | TS |
| 2808 | 5.0 | Oligo | UR1 | Paired LCRs | (17) | NAHR | (17) | P, inter | TS |
| 2946 | 2.8 | Oligo | CNR | Two LCRs | (17) | RMs | (17) | M, intra | (35) |
| 2948 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | P, inter | TS |
| 2953 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | Inter | TS |
| 2956 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2959 | 5.0 | Oligo | UR1 | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2962 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2965 | 2.5 | Oligo, Omni-1 | CNR | Four LCRs | (17), TS | RMs | (17) | P, inter | TS |
| 2995 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, inter | TS |
| 2998 | 3.7 | Oligo | CR | Paired LCRs | (17) | NAHR | (17) | M, intra | TS |
| 3028 | 3.7 | Oligo | CR | Paired LCRs | TS | NAHR | TS | M, inter | TS |
| 3142 | 2.1 | Oligo | UR2 | Paired LCRs | (19) | NAHR | (19) | Inter | TS |
BAC, bacterial artificial chromosome; CGH, comparative genomic hybridization; CNR, complex nonrecurrent duplication; CR, common recurrent duplication; inter, interchromosomal rearrangement; intra, intrachromosomal rearrangement; LCR, low-copy repeat; M, maternal origin; NA, not available; NAHR, non-allelic homologous recombination; NHEJ, non-homologous end-joining; oligo, oligonucleotide; P, paternal origin; RMs, replicative mechanisms; SNR, simple nonrecurrent duplication; TS, this study; UR1, uncommon recurrent type I duplication; UR2, uncommon recurrent type II duplication.
aFor complex nonrecurrent duplications, the sizes of continuous RAI1 gene duplications were given.