Table 2.
Comparison of karyotyping and FISH versus OGM.
| Pat. # | Karyotyping | FISH | OGM (hg38) 1 | OGM Predicted Karyotype |
|---|---|---|---|---|
| 2 | 46,XY,t(8;21)(q22;q22),del(9)(q21q31) [8]/46,XY[7] |
nuc ish 8q22(ETOx3),21q22(AML1x3)(ETO con AML1x2)[65/100] | ogm[GRCh38]46,XY,t(8;21)(q22.1;q22.12)(92059784;34850575),9q21.11q31.1(67717842_102668165)x1 | 46,XY,t(8;21)(q22.1;q22.12),del(9)(q21.11q31.1) |
| 7 | 46,XY,t(8;21)(q22;q22)[13]/46,XY[2] | nuc ish 8q22(ETOx3),21q22(AML1x3)(ETO con AML1x2)[83/100] | ogm[GRCh38]46,XY,t(8;21)(q21.3;q22.12)(92067075;34843977) | 46,XY,t(8;21)(q21.3;q22.12) |
| 8 | 45,X,−Y,t(8;21)(q22;q22)[14]/46,XY[1] | nuc ish cen7(CEP7x2),7q31(D7S486x2[100/100],cen8(CEP8x2)[99/100),8q22(ETOx3),21q22(AML1x3)(ETO con AML1x2)[95/100] | ogm[GRCh38]45,X,t(8;21)(q21.3;q22.12)(92059784;34855785),Yp11.32q12(11554_57212132)x1~2 | 45,X,-Y,t(8;21)(q21.3;q22.12) |
| 17 | 45,XY,−7[14]/46,idem,+8[6] | nuc ish 8q22(RUNX1T1x3),21q22(RUNX1x2)[12/100] | ogm[GRCh38]45,XY,7p22.3q36.3(10487_159334984)x1,8p23.3q24.3(61806_145076125)x2~3 | 46,XY,-7,+8 2 |
| 18 | 46,XY[25] | negative | ogm[GRCh38]46,XY | 46,XY |
| 23 | 46,XY[25] | negative | ogm[GRCh38]46,XY | 46,XY |
| 1 | 47,+8[6]/45,XY,−11[3]/46,XY[13] | nuc ish 8q22(RUNX1T1x3),21q22(RUNX1x2)[13/100] nuc ish 11q23(MLLx2)[100/100] 3 |
ogm[GRCh38]47,XY, 8p23.3q24.3(208898_145076125)x2~3 | 47,XY,+8 |
| 12 | 46,XY,t(9;11)(p21;q23)[16]/ 47,idem,+8[4]/46,XY[1] |
nuc ish 11q23(MLLx2)(5′MLL sep 3′MLLx1)[15/100] | ogm[GRCh38]46,XY,t(9;11)(p21.3;q23.3)(118493942;20375121) | 46,XY,t(9;11)(p21.3;q23.3) |
| 20 | 46,XX,t(11;19)(q23;p13)[8]/ 47,idem,+dmin[7] |
nuc ish 11q23(MLLx2)(5′MLL sep 3′MLLx1)[77/100] | ogm[GRCh38]46,XX,t(11;19)(q23.3;p13.3)(118479068;6205232) | 46,XX,t(11;19)(q23.3;p13.3) |
| 4 | 46,XY,del(10)(q21q22),del(11)(q23)[12]/46,XY[3] | nuc ish (MLLx1)(5′MLL sep 3′MLLx1)[95/100] | ogm[GRCh38]46,XY,10p12.31(20591034_21642851)x1,10q21.1(56175397_57570855)x1,10q21.1q21.2(58331941_62944232)x1,10q22.2(73474864_75389039)x1,10q23.1(82757631_85834864)x1,t(10;11)(q21.1;q23.2)(58331941;113938345),19p13.11(19153167_19162215)x1 | 46,XY,der(10;11)t(10;11)(q21.1;q23.2),del(19)(p13.11) |
| 9 | 46,XY[25] | negativ | ogm[GRCh38]46,XY,1p34.1p32.3(44994758_53861278)x1 | 46,XY,del(1)(p34.1p32.3) |
| 10 | 46,XX,inv(16)(p13q22)[10]/ 48,idem,+8,+22[9]/46,XX[1] |
nuc ish 8q22(RUNX1T1x3),21q22(RUNX1x2)[36/100],16q22(CBFBx2)(5′CBFB sep 3′CBFBx1)[64/100] | ogm[GRCh38]48,XX,7q31.2q34(117134687_139402873)x1,8p23.3q24.3(61805_145076125)x2~3,16p13.11(15709259_16475295)x1,16p13.11q22.1(15706265_67104157)inv,22p13q13.33(10514803_50805587)x2~3 | 48,XX,+8,+22, del(7)(q31.2q34) 4,del(16)(p13.11),inv(16)(p13.11q22.1) |
| 13 | 46,XX,t(10;11)(p12;q23)[13]/46,XX[7] | nuc ish 11q23(MLLx2)(5′MLL sep 3′MLLx1)[96/100] | ogm[GRCh38]46,XX,t(10;11)(p12.31;q23.3)(21653601;108120278),11q22.3q23.3(108113047_118493942)x1 | 46,XX,t(10;11)(p12.31;q23.3),del(11)(q22.3q23.3) |
| 15 | 46,XY,?t(17;19)(q22;q13)[20] | nuc ish 12p13(ETV6x3),21q22(RUNX1x2)[85/100],16q22(CBFBx2)[99/100],17q21.1(RARAx2)[98/100],19p13(E2Ax2)[98/100] | ogm[GRCh38]46,XY,2p11.2(87120538_87736106)x2~3,t(2;12)(p24.3;p13.2)(12771965;11724938),8q23.1(108722194_109473788)x2~3,t(17;19)(q22;q13.32)(58275730;45095385) | 46,XY,dup(2)(p11.2),t(2;12)(p24.3;p13.2),dup(8)(q23.1),t(17;19)(q22;q13.32) |
| 16 | 46, XY,t(15;17)(q24;q21),inc[15] | nuc ish 17q21.1(5′RARAx3,3′RARAx2)(5′RARA con 3′RARAx2)[93/100] | ogm[GRCh38]46,XY,13q21.32q34(65889491_114352102)x2~3,t(15;17)(q24.1;q21.2)(74029809;40335716) | 46,XY,+13q 2,t(15;17)(q24.1;q21.2) |
| 19 | 46,XX,t(6;9)(p22;q34)[15] | nuc ish 6p22(DEKx3),9q34(NUP214x3)(DEK con NUP214x2)[85/100] | ogm[GRCh38]46,XX,t(6;9)(p22.3;q34.13)(18232692;131152428),11p12(41618837_42297919)x2~3 | 46,XX,t(6;9)(p22.3;q34.13),dup(11)(p12) |
| 21 | 46~48,XX,der(9)del(9)(p21)del(9) (q22q33),+21,+21[cp15]/46,XX[5] |
nuc ish 8q22(RUNX1T1x2),21q22(RUNX1x3~4)[70/100],9q34(ABL1x2),22q11(BCRx2)[97/100] | * not described, because of chromothripsis | 48,XX,cth(9),+21,+21 |
| 24 | 46,XX[25] | negative | ogm[GRCh38]46,XX,2q36.3(229862838_229886192)ins,9p12p11.2(39560026_40813220)x2~3,9q21.11(66749836_67475278)x2~3 | 46,XX,ins(2)(q36.3),dup(9)(p12p11.2),dup(9)(q21.11) |
| 3 | 46,XX,t(6;11)(q26;q23)[10]/ 46,idem,del(1)(q24q41)[4]/46,XX[1] |
nuc ish 11q23(MLLx2)(5′MLL sep 3′MLLx1)[84/100] | ogm[GRCh38]46,XX,2q36.3q37.2(229708729_235034836)x1,t(2;6)(q31.3;q22.31)(124062016;180428380),t(4;8)(p15.33;q24.21)(180428380;124062017),t(6;11)(q27;11q23.3)(167843969;118493942),t(8;14)(q11.21;q32.33)(47525976;105869036),8p23.1q24.21(10764562_129368956)x1 | 46,XX,del(2)(q36.3q37.2),t(2;6)(q31.3;q22.31),t(4;8)(p15.33;q24.21),t(6;11)(q27;q23.3),del(8)(p23.1q24.21),t(8;14)(q11.21;q32.33) |
| 5 | 46,XX,t(9;11)(p21,q23)[2]/ 46,idem,der(21)t(8;21)(q21;p13)[7]/ 46,XX[6] |
nuc ish 8q22(RUNX1T1x3),21q22(RUNX1x2)[72/100],11q23(MLLx2)(5′MLL sep 3′MLLx1)[94/100] | ogm[GRCh38]46,XX,8q13.1q24.3(66259972_142032191)2~3,t(9p24.3;11q23.3)(21118146;118493942),t(14q24.3;17q21.32)(73466593;49017556),14q24.3q32.33(73473834_106873282)x1~2,17q21.32q25.3(49017556_83246392)x2~3 | 46,XX,+8q 5,t(9;11)(p24.3;q23.3),t(14;17)(q24.3;q21.32),del(14)(q24.3q32.33),dup(17)(q21.32q25.3) |
| 6 | 48,XX,del(6)(q16q25),der(7)t(7;13)
(p11;p11),+der(8)t(1;8)(q21;p11),+10 [17]/46,XX[4] |
nuc ish 8q22(RUNX1T1x3),21q22(RUNX1x2)[67/100] | ogm[GRCh38]47,XX,1q21.1q44(143278152_248943333)x2~3,t(6;7)(q21;p15.2)(109354469;27165827),8q11.1q24.3(45972483_145076125)x2~3,10p15.3q26.3(18514_133785266)x2~3 | 47,XX,+1q,t(6;7)(q21;p15.2),+8q,+10 |
| 11 |
47,XX,+21[2]/49,idem,+6,+20[5]/ 92,XXYY[1]/46,XX[18] |
nuc ish 3q26(EVIx4)[7/100],8q22(RUNX1T1x2),21q22(RUNX1x3)[37/100],11q23(MLLx4)[6/100],16q22(CBFBx4)[6/100]nuc ish 6q23(MYBx3)[19/100],20q12(D20S108x3)[16/100],21q22 (AML1x3)[21/100] 3 | ogm[GRCh38]46,XX,16p13.3q24.3(4331324_88868384)inv | 46,XX,inv(16)(p13.3q24.3) |
| 14 | 48,XY,+6,+6[1]/48,idem,del(3)(q13q26),add(11)(p14)[23]/46,XY[1] | - | ogm[GRCh38]48,XY,3q13.12q25.31(107775421_167698608)x1,3q25.31q26.1(156499437_167703086)inv,6p25.3q27(76216_170739897)x3~4,t(11;17)(p15.4;q24.2)(3733790;67956414) | 48,XY,del(3)(q13.12q25.31),inv(3)(q25.31q26.1),+6,+6,t(11;17)(p15.4;q24.2) |
| 22 | 45,XY,der(4)del(4)(p11p15)del(4) (q11q24),−7,add(13)(p11), t(17;19)(q22;q13)[20] |
nuc ish 8q22(RUNX1T1x2),21q22(RUNX1x2)[100/100] | ogm[GRCh38]46,XY,1p36.13p35.2(14490385_32907733)x1,4p12(44197510_49078708)x1,4q12q13.1(51826792_63679087)x1,t(4;7)(p15.1;p21.3)(32503668;9394985),7q11.21q36.3(62995089_157624118)x1,t(8;12)(q24.13;12p13.2)(125189890;11672773),13q14.2q14.3(48278417_51484127)x1,15q15.1(40315717_41591804)x1~2,16p13.2p12.3(9863863_16429873)x1~2,t(17;19)(q22;q13.32)(58275730;45095385),22q12.2q12.3(28643629_34061240)x1~2 | 46,XY,del(1)(p36.13p35.2),del(4)(p12),del(4)(q12q13.1),t(4;7)(p15.1;p21.3),del(7)(q11.21q36.3),t(8;12)(q24.13;p13.2),del(13)(q14.2q14.3),del(15)(q15.1),del(16)(p13.2p12.3),t(17;19)(q22;q13.32),del(22)(q12.2q12.3) |
1 adapted from ISCN microarray nomenclature. 2 CNV confidence 0.1. 3 additional FISH diagnostic due to discrepancies in aneuploidies between karyotyping and OGM. 4 subclonal del(7). 5 map of chromosome 21 was found as an insertion in chromosome 8 in Bionano Access Server. * very complex chromothriptic pattern of abberrations, for details see text chapter 3.1.3. The background colors of column 1 in this table indicate identical or divergent results of karyotyping and OGM and corresponds to the colors in Figure 1. For details see legend of Figure 1. Structural Variants detected by only one of the two methods are indicated in bold.