Table 4

Paired-end sequencing and breakpoint junction analysis of patients with deletion/duplication mutations

Patient numberTypeExonsAberrant paired-end callBreakpoint*Size (bp)
17Deletion12–43UndetectedChrX:g.32 155 793–32 548 092392 299
18Deletion3–13UndetectedNot determined
19Deletion8–13Too longChrX:g.32 507 320–32 669 677162 357
20Deletion52–53Too longChrX:g.31 606 256–31 658 24151 985
21Deletion53–54Too longChrX:g.31 580 658–31 640 21559 557
22Deletion53Too longChrX:g.31 599 954–31 657 06657 112
23Duplication30–47ScrambleChrX:g.31 807 975–32 356 021548 046
24Duplication45–52ScrambleChrX:g.31 653 473–32 040 375386 902
25Duplication50–55InversionNot determined

  • ↵* The genomic positions were referenced from hg18, NCBI build 36.