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Table 3 Number of Illumina Beadchip (Human WG) microarray probe sets within 15q11.2q13.1 targeting distinct interchromosomal duplicons

From: Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons

No. Of Probes

Interchromosomal Duplicon Matches

Chromosome Location

BP1 (chr15:20,719,986-22,833,559, GRCh37; hg19)

1

1

16q12.2

1

1

13q13.3

7

3

14q32.33

1

1

21q11.2, 13q11, 18p11.21

1

6

22q11.1, 2q21.1, 18p11.21, 21q11.2, 14q11.2

1

1

16q24.2

2

1

16q12.2

1

1

20q13.12

BP2 (chr15:23,148,559-23,804,907, GRCh37; hg19)

No probe coverage

BP3 (chr15:28,267,405-29,498,708, GRCh37; hg19)

3

11

16p11.2, 22q11.22, 19p13.3, 1q21.1, 22q11.21, 1q41, 13q31.3

2

1

20p12.1

  1. Probe distribution along 15q11.2q13 with the Illumina Beadchip human whole genome array shows a high proportion of cross-hybridizing probes to SDs in BP1 and BP3, relative to those detecting unique intervals. 75% (n = 14/20) of the probes (left column) in BP1 also detect distinct interchromosomal duplicon loci (middle column) in a given chromosome band (right column). In BP3, 50% (n = 5/10) of the probes hybridized to interchromosomal targets. The remaining probes were found at paralogous loci on chromosome 15 or within repeat-masked regions. Probes within intrachromosomal duplicons (n = 5) and repeat-masked sequences (n = 1) were poorly represented in BP1 and none were found in BP2.
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Molecular Cytogenetics

ISSN: 1755-8166