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. Author manuscript; available in PMC: 2014 Sep 1.
Published in final edited form as: Hum Mutat. 2013 Jun 3;34(9):1250–1259. doi: 10.1002/humu.22354

Figure 2.

Figure 2

Sequence of the region flanking the t(9;22) breakpoint on 9p21 and 22q11.2 from patient DD129BE. Orientation of the sequence is centromere to telomere. PCR primers are indicated by italics. Forward and Reverse primer pairs are labeled with the same color. ATRR on chromosomes 9 and 22 are underlined. The nucleotide polymorphisms are boxed. (a) Normal chromosome 9. The portion of 9p21 proximal to the breakpoint and present in der(9) is depicted in bold type. The 127bp-SINE sequence on chromosome 9 is shown as a light blue box. The italicized bases in ATRR represent the deletion of 67 bp. (b) Derivative 9. The portions of 9p21 and 22q11.2 are depicted in bold and plain type respectively. Four base pairs [GTAT] which cannot be definitely assigned to chromosome 9 or 22 are outlined boxed in red. (c) Normal chromosome 22. The portion of 22 proximal to the breakpoint and present in der(22) is shown in bold. The 127bp-SINE sequence on chromosome 22 is presented in dark blue box. Two non-AT rich sequences in PATRR22 are shown in orange and yellow highlighting. (d) Derivative 22. The portions of 22q11.2 and 9p21 are depicted in bold and plain type respectively. Four base pairs [ATAC] which cannot be definitely assigned to chromosome 9 and 22 are boxed in red.