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. Author manuscript; available in PMC: 2015 Jun 9.
Published in final edited form as: Nat Genet. 2009 Jun 21;41(7):849–853. doi: 10.1038/ng.399

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.