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Table 1 Combined karyotypes after conventional and molecular cytogenetic analyses

From: Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

case Karyotype (ISCN 2009; Mb positions mapped in hg19) % mos del/dup size
1 46,XX,dup(13)(q31.3q33.1)dn/46,XX.arr 13q31.3q33.1 (RP11-319 L6-RP11-564 N10)x2 ~3 66% 11.11 Mb
2 46,XX,dup(15)(q25q26.3)dn/46,XX.arr 15q25.2q26.3 (RP11-365 F16-CTB-154P1)2 ~3 55% 18.25 Mb
3 46,XY,dup(11)(q12.1q13.3)dn/46,XY.arr 11q12.1q13.3 (RP11-131 J4-RP11-804 L21)2 ~3 53% 14.55 Mb
4 46,XY,dup(1)(q12q32.1)dn/46,XY.arr 1q12q32.1 (RP11-417 J8-RP11-383 G10)2 ~3 72% 62.72 Mb
5 46,XX,der(6)t(2;6)(p23.2;qter)dn/46,XX.arr 2p25.3p23.2 (GS1-68 F18-RP11-328 L16)2 ~3 15% 29.36 Mb
6 46,XY,der(20)t(1;20)(10q;10p)dn/46,XY * 50% 25.56 Mb/124.2 Mb
7 46,XX,der(10)t(9;10)(p23;q26.13)dn/46,XX.arr 9p24.3p23(40,910-13,575,891)x2 ~3, 10q26.13q26.3 (124,007,108-135,422,505)x1 ~2 20% 13.53 Mb/11.31 Mb
8 46,XX.ish del(11)(q14.1q14.2)(RP11-118 L16-,RP11-157B22-)dn[21/50].arr 11q14.1q14.2(83,122,844-86,794,856)x1 ~2 20% 3.7 Mb
9 46,XX.ish del(1)(q43q44)(RP11-113O11-,RP11-370 K11-)dn[25/50].arr 1q43q44(242,916,876-243,920,382)x1 ~2 30% ~1 Mb
  1. *Insufficient DNA for array analysis