Table 1. Characteristics of the complex rearrangements in 17p.
| Scale | Subject | Rearrangement pattern | Sizea | Microhomology |
|---|---|---|---|---|
| Genomic | 2337b | del-nml-dup-nml-del-nml-dup-tri- dup-tri-dup |
19.6 Mb | NA |
| 621 | dup-tric | 15.5 Mb | CC, TTGGT | |
| 2711b | del-nml-dup | 11.3 Mb | NA | |
| 2211b | dup-nml-dup | 9.4 Mb | NA | |
| 1458b | tri-nml-dup | 9.0 Mb | NA | |
| 1229b | del-nml-dup | 6.5 Mb | ACCTTC | |
| 563 | dup-tri-dup | 5.6 Mb | CCTC, CTCCC | |
| 2695b | dup-tri-dup | 4.4 Mb | 31 bp (in AluY) | |
| 2543 | dup-nml-dup | 3.5 Mb | NA | |
| Genic | A2 | dup-tri-dup-nml-dup | 520 kb | NA |
| Exonic | A15 | del-nml-del-nml-dup | 8.7 kb | AACA, AACCT, AAG |
del, deletion; dup, duplication; nml, normal; tri, triplication; NA, not available.
a
The sizes of the entire genomic region involved in complex rearrangement are shown.
b
Entire complex rearrangement revealed by oligonucleotide aCGH is de novo based on studies of parents.
c
Oligonucleotide aCGH revealed a duplication-triplication rearrangement in subject 621. The sequence analysis of one of the breakpoint junction showed more complexities, some of which remain uncharacterized.