Table 2 Overview of quantitative polymerase chain reaction (qPCR) breakpoint mapping in the five patients and the translocation family
PatientAberration size (Mb)Proximal breakpointDistal breakpoint
Size (bp)Repeat content* (%)Repeats*Size (bp)Repeat content* (%)Repeats*
1†2.31–2.33928795.575 LTR, 1 LINE1, 2 MER2_type849180.442 LINE1
2†10.07–10.09350678.694 LINE1, 1 Alu, 1 MER1_type931676.1712 LINE1, 17 Alu, 1 simple repeat
3†2.31–2.33928795.575 LTR, 1 LINE1, 2 MER2_type849180.442 LINE1
4‡1.38–1.39165830.642 MER2_type95932.331 Alu
2.319190None92064.352 LINE1
Family 6¶NAchr5: 844680.862 LINE1chr18: 806986.601 LINE1, 1 SINE, 2 LTR, 4 simple repeat, 2 low complexity
  • *As determined by RepeatMasker; †interstitial deletion; ‡interstitial duplication; §unbalanced paracentric inversion with interstitial deletion; ¶translocation t(5;18).

  • NA, not applicable.