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.
The sizes of the entire genomic region involved in complex rearrangement are shown.
Entire complex rearrangement revealed by oligonucleotide aCGH is de novo based on studies of parents.
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.