Summary of Clinical and Cytogenetic Data
| Case . | Age/ Sex . | Status/ Source* . | Conventional Karyotype . | SKY Karyotype . | Comments† . |
|---|---|---|---|---|---|
| 1 | 2/F | DX/BM | 46,X,inv(X)(p22q28),add(1)(q32),der(5) t(1;?;5)(q32;?;q23),add(6)(q27), del(9) (p2?1p24)[25]/46,XX[5] | 46,X,inv(X),t(1;5)(q3?2;q3?1),der(6)t(5;6)(q31;q2?7),del(9p)[12] | Vysis WCP 1 sg+5so, 1sg+6so, and 5so+6sg confirmed t(1;5) and der(6) t(5;6). SKY CLARIFIED ANALYSIS |
| 2 | 50/M | DX/BCore | 43,X,−Y,der(12)t(12;13)(p11.2;q11),−13,add(14)(q32),add(17) (q25),−19, add(21) (p13)[9]/43,idem,del(6)(q13q25)[3]/46,XY[8] | 43,X,−Y,t(6;17),der(12)t(12;13), −13,−13,dup(14)(q24q32), der(21)t(Y;21)[1]/42,X,−Y,t(6;17), der(12)t(12;13),−13−13,−19, der(21)t(Y;21)[1]/42,X,−Y,t(6;17), der(12)t(12;13),−13,−13, dup(14q),−16, der(21)t(Y;21)[1]/39,X,−Y,−5,t(6;17), −7,−11,der(12)(12;13),−13,−13, dup(14q),der(21)t(Y;21)[1]/41,X,−Y,−3,t(6;17), −12,der(12)t(12;13),−13, −19,?+20,der(21)t(Y;21)[1]/45,X,−Y,?+3,?+6,t(6;17),der(12)t(12;13),−13, −13,dup (14q),der(21)t(Y;21)[1] | All 14’s classified as normal; Vysis WCP6 +Oncor COatasome 17 dig confirmed t(6;17); Ysg+21so confirmed der(21) t(Y;21) 12so+13sg confirmed der(12) t(12;13); SKY CLARIFIED ANALYSIS |
| 3 | 36/M | RD/BM | 47,XY,+?Y,dup(1)(p22p36.1),t(7;18) (p13;p11),?add(14)(q32)[10]/46,idem, add(19)(p13 or q13)[3]/46,XY[7] | 47,XY,+Y,dup(1p),der(14)t(7;14) (p13;q32),der(18)t(4;18)(p1?2;p1?2), der(19)t(9;19)(q34;p or q13)[7]/46,XY[3] | Vysis WCP 7sg+14so confirmed der(14) t(7;14) der(19) t(9;19); 4sg+6so confirmed der(18) t(4;18). 7sg+WCP 14so confirmed 7on 14 but no evidence for 14 on 7; SKY CLARIFIED ANALYSIS |
| 4 | 15/F | DX/PB | 46,X,t(X;7)(q13;q32),t(8;9)(q21;p2?4),del(9)(p13p22)[16]/46,idem, del(6) (q1?5q2?3)[9]/45,idem,−6[4]/46,XX[2] | 46,X,t(X;7),t(8;9),del(9p)[6]/46,idem,del(6q)[4] | Vysis WCP 8so+9sg confirmed t(8;9); SKY CONFIRMED ANALYSIS |
| 5 | 9/F | DX/PB | 46,XX,t(1;16)(q21;q24)[29] | 46,XX,t(1;16)[6]/46,XX[1] | Vysis WCP 1sg+16so confirmed t(1;16). SKY CONFIRMED ANALYSIS |
| 6 | 0/F | DX/BM | 46,XX,t(7;11)(q34;p11)[19]/46,XX[4] | 46,XX,(7;11)[6]/46,XX[2] | SKY CONFIRMED ANALYSIS |
| 7 | 5/M | DX/PB | 46,XY,del(9)(p13p22 or p22p24)[5]/46,idem, del(6)(q15q25),[3]/46,XY[24] | 46,XY,del(9p)[2]/46,XY,idem,del(6q)[2]/46,XX[1] | SKY CONFIRMED ANALYSIS |
| 8 | 25/M | DX/BM | 46,XY,del(1)(p32p34)[1]/46,idem,inv(7)(p15q34)[17]/46,XY[13] | 46,XY,del(1)(p),inv(7)[2]/46,XY[2] | SKY CONFIRMED ANALYSIS |
| 28 | Relapse BM (post BMT)‡ | 46,XY,del(1),add(1)(p21),t(2;15)(q37;q15),del(5)(q13q35),del(6)(q23q25), inv(7),der(17)t(1;17)(q23;p11)[9]/46,XY,[11] | 46,XY,del(1)(p),ins(1)(p34;q2?3q32),t(2;15)(q3?3;q1?5),del(5),del(6),inv(7),t(12;14)(q24;q3?2),der(17)t(1;17)(q3?2;p11)[6]/46,XY[1] | A painting probe for chromosome 12 and a telomere probe for 14q confirmed the t(12;14) SKY CLARIFIED ANALYSIS | |
| 9 | 3/M | DX/BM | 46,XY,t(9;9)(p11;q11),del(14)(q21q32) [14]/90,XXYY,t(9;9)(p11;q11)X2, del(14)(q21q32)X2,−15,−?15[3]/46,XY[3] | 46,XY,t(9;9),del(14)[4]/89-92[2] | SKY CONFIRMED ANALYSIS |
| 10 | 6/M | DX/BM | 46,XY,t(11;14)(p13;q11)[2]/46,XY[21] | 46,XY[7] | No abnormal cells identified. |
| 11 | 7/M | RL?/BM‡ | 46,XY[23] | 46,XY[8] | SKY CONFIRMED ANALYSIS |
| 12 | 10/M | DX/BM | 46,XY,inv(9)c[45] | 46,XY[4] | SKY CONFIRMED ANALYSIS |
| 13 | 16/M | DX/BM | 46,XY[30] | 46,XY[9] | SKY CONFIRMED ANALYSIS |
| 14 | 30/M | RD‡/BM | 46,XY[20] | 46,XY[7] | SKY CONFIRMED ANALYSIS |
| 15 | 6/M | DX/BM | 46,XY[22] | 46,XY[5] | SKY CONFIRMED ANALYSIS |
| Case . | Age/ Sex . | Status/ Source* . | Conventional Karyotype . | SKY Karyotype . | Comments† . |
|---|---|---|---|---|---|
| 1 | 2/F | DX/BM | 46,X,inv(X)(p22q28),add(1)(q32),der(5) t(1;?;5)(q32;?;q23),add(6)(q27), del(9) (p2?1p24)[25]/46,XX[5] | 46,X,inv(X),t(1;5)(q3?2;q3?1),der(6)t(5;6)(q31;q2?7),del(9p)[12] | Vysis WCP 1 sg+5so, 1sg+6so, and 5so+6sg confirmed t(1;5) and der(6) t(5;6). SKY CLARIFIED ANALYSIS |
| 2 | 50/M | DX/BCore | 43,X,−Y,der(12)t(12;13)(p11.2;q11),−13,add(14)(q32),add(17) (q25),−19, add(21) (p13)[9]/43,idem,del(6)(q13q25)[3]/46,XY[8] | 43,X,−Y,t(6;17),der(12)t(12;13), −13,−13,dup(14)(q24q32), der(21)t(Y;21)[1]/42,X,−Y,t(6;17), der(12)t(12;13),−13−13,−19, der(21)t(Y;21)[1]/42,X,−Y,t(6;17), der(12)t(12;13),−13,−13, dup(14q),−16, der(21)t(Y;21)[1]/39,X,−Y,−5,t(6;17), −7,−11,der(12)(12;13),−13,−13, dup(14q),der(21)t(Y;21)[1]/41,X,−Y,−3,t(6;17), −12,der(12)t(12;13),−13, −19,?+20,der(21)t(Y;21)[1]/45,X,−Y,?+3,?+6,t(6;17),der(12)t(12;13),−13, −13,dup (14q),der(21)t(Y;21)[1] | All 14’s classified as normal; Vysis WCP6 +Oncor COatasome 17 dig confirmed t(6;17); Ysg+21so confirmed der(21) t(Y;21) 12so+13sg confirmed der(12) t(12;13); SKY CLARIFIED ANALYSIS |
| 3 | 36/M | RD/BM | 47,XY,+?Y,dup(1)(p22p36.1),t(7;18) (p13;p11),?add(14)(q32)[10]/46,idem, add(19)(p13 or q13)[3]/46,XY[7] | 47,XY,+Y,dup(1p),der(14)t(7;14) (p13;q32),der(18)t(4;18)(p1?2;p1?2), der(19)t(9;19)(q34;p or q13)[7]/46,XY[3] | Vysis WCP 7sg+14so confirmed der(14) t(7;14) der(19) t(9;19); 4sg+6so confirmed der(18) t(4;18). 7sg+WCP 14so confirmed 7on 14 but no evidence for 14 on 7; SKY CLARIFIED ANALYSIS |
| 4 | 15/F | DX/PB | 46,X,t(X;7)(q13;q32),t(8;9)(q21;p2?4),del(9)(p13p22)[16]/46,idem, del(6) (q1?5q2?3)[9]/45,idem,−6[4]/46,XX[2] | 46,X,t(X;7),t(8;9),del(9p)[6]/46,idem,del(6q)[4] | Vysis WCP 8so+9sg confirmed t(8;9); SKY CONFIRMED ANALYSIS |
| 5 | 9/F | DX/PB | 46,XX,t(1;16)(q21;q24)[29] | 46,XX,t(1;16)[6]/46,XX[1] | Vysis WCP 1sg+16so confirmed t(1;16). SKY CONFIRMED ANALYSIS |
| 6 | 0/F | DX/BM | 46,XX,t(7;11)(q34;p11)[19]/46,XX[4] | 46,XX,(7;11)[6]/46,XX[2] | SKY CONFIRMED ANALYSIS |
| 7 | 5/M | DX/PB | 46,XY,del(9)(p13p22 or p22p24)[5]/46,idem, del(6)(q15q25),[3]/46,XY[24] | 46,XY,del(9p)[2]/46,XY,idem,del(6q)[2]/46,XX[1] | SKY CONFIRMED ANALYSIS |
| 8 | 25/M | DX/BM | 46,XY,del(1)(p32p34)[1]/46,idem,inv(7)(p15q34)[17]/46,XY[13] | 46,XY,del(1)(p),inv(7)[2]/46,XY[2] | SKY CONFIRMED ANALYSIS |
| 28 | Relapse BM (post BMT)‡ | 46,XY,del(1),add(1)(p21),t(2;15)(q37;q15),del(5)(q13q35),del(6)(q23q25), inv(7),der(17)t(1;17)(q23;p11)[9]/46,XY,[11] | 46,XY,del(1)(p),ins(1)(p34;q2?3q32),t(2;15)(q3?3;q1?5),del(5),del(6),inv(7),t(12;14)(q24;q3?2),der(17)t(1;17)(q3?2;p11)[6]/46,XY[1] | A painting probe for chromosome 12 and a telomere probe for 14q confirmed the t(12;14) SKY CLARIFIED ANALYSIS | |
| 9 | 3/M | DX/BM | 46,XY,t(9;9)(p11;q11),del(14)(q21q32) [14]/90,XXYY,t(9;9)(p11;q11)X2, del(14)(q21q32)X2,−15,−?15[3]/46,XY[3] | 46,XY,t(9;9),del(14)[4]/89-92[2] | SKY CONFIRMED ANALYSIS |
| 10 | 6/M | DX/BM | 46,XY,t(11;14)(p13;q11)[2]/46,XY[21] | 46,XY[7] | No abnormal cells identified. |
| 11 | 7/M | RL?/BM‡ | 46,XY[23] | 46,XY[8] | SKY CONFIRMED ANALYSIS |
| 12 | 10/M | DX/BM | 46,XY,inv(9)c[45] | 46,XY[4] | SKY CONFIRMED ANALYSIS |
| 13 | 16/M | DX/BM | 46,XY[30] | 46,XY[9] | SKY CONFIRMED ANALYSIS |
| 14 | 30/M | RD‡/BM | 46,XY[20] | 46,XY[7] | SKY CONFIRMED ANALYSIS |
| 15 | 6/M | DX/BM | 46,XY[22] | 46,XY[5] | SKY CONFIRMED ANALYSIS |
White blood cell count (109/L) with percent blasts in parentheses is as follows: case 4, 234 (96%); case 5, 32.5 (80%); case 7, 950; case 10, 14.4; case 12, 110 (99.5%); case 13, 17.6 (94%); case 15, 13.1.
sg and so are Spectrum Green and Spectrum Orange, respectively (Vysis, Downers Grove, IL).
Two years before this sample, patient had a bone marrow transplant. A subsequent sample 13 months later had multiple clones with many abnormalities.