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Table 1 Cases in which microarray analysis detected aberrations identified by chromosome analysis or FISH†

From: Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis

Case Karyotype FISH Percent Abnormal by FISH Array Results Size
1 46,XY,del(11)(q21q23.3)[6]/46,XY[12] nuc ish(CCND1,IGH@)x2 [217/217]
nuc ish(CD82x2),(ATMx1)[138/200] nuc ish(CD82x2),(ATMx0)[29/200]
nuc ish(pBR12,APAF1)x2[209/209] nuc ish(D13S319x1),(LAMP1x2)[129/200]
nuc ish(TP53,ERBB2)x2[200/200]
0
69
14.5
0
64.5
0
del chr11:90634258-113746962 (11q14.3q23.2)
del chr13:47624176-49406099 (13q14.2q14.3)
del chr11:47479616-49590709 (11p11.2p11.12)
del chr11:84811642-86481659 (11q14.1q14.2)
23.1 Mb
1.8 Mb
2.1 Mb
1.7 Mb
2 46,XX,der(3)del(3)(p13p21)inv(3)(p21p24),der(6)del(6)(q15q21)inv(6)(p21.3q23)[13]/46,XX[7] nuc ish(CD82,ATM)x2[200/200]
nuc ish(D13S319x1),(LAMP1x2)[157/200]
IGH postive with 149/200 (74.5%) positive with loss of 5' signal in majority of cells.
0
78.5
del chr13:48903923-49406099 (13q14.3q14.3)
del chr14:105267349-106339477 (14q32.33q32.33)
dup chr1:912529-3454889 (1p36.33p36.32)
del chr3:23938864-24184494 (3p24.2p24.2)
del chr3:36967519-37301610 (3p22.2p22.2)
del chr3:38387176-38681540 (3p22.2p22.2)
del chr6:31007155-31476070 (6p21.33p21.33)
del chr6:43741228-45692992 (6p21.1p12.3)
del chr6:65600819-65840071 (6q12q12)
del chr6:95941606-99824130 (6q16.1q16.2)
del chr6:106626906-116596208 (6q21q22.1)
dup chr13:113525857-113954547 (13q34q34)
dup chr20:59074507-62317284 (20q13.33q13.33)
del chr22:21330008-21570697 (22q11.22q11.22)
502 kb
1.1 Mb
2.5 Mb
246 kb
334 kb
294 kb
469 kb
2.0 Mb
239 kb
3.9 Mb
10.0 Mb
429 kb
3.2 Mb
241 kb IGL
5 42,X,-X,t(1;9)(q25;p13),add(5)(p13),der(8)t(8;13)(q13;q14),-9,der(12)t(12;?14) (q13;q11.2),
-13,inv(14)(q11.2q32),
psu dic(15;3)(p11.2;q27),der(17;21)(q10;q10),+der(17)t(17;21)(q10;q10)del(17)(q25)[15]/45,XX,t(1;10)(q21;q22),add(3)(q21),t(4;21)(q25;p11.2),t(6;19)(q21;p13.1),-9,del(9)(p13p24),inv(14)(q11.2q32), psu dic(15;3)(p11.2;q27),der(17;21)(q10;q10),+21[3]
43,XX,t(2;16)(q13;q22),del(7)(q22q32),der(8)t(8;13)(q13;q14),-9,add(9)(p13),der(12)t(12;?14)(q13;q11.2),
inv(14)(q11.2q32),psu dic(15;3)(p11.2;q27),der(17;21)(q10;q10)del(17)(q25),+der(17;21)(q10;q10)add(21)(q22)[2]
nuc ish(TP53x1),(ERBB2x2)[139/200]
nuc ish(TP53x1),(ERBB2x3)[9/200]
69.5
4.5
del chr17:0-21055067 (17p13.3p11.2)
dup chr17:23775933-78654742 (17q11.2q25.3)
dup chr1:912529-3548139 (1p36.33p36.32)
del chr1:221094574-222727272 (1q41q42.12)
del chr1:229351994-229691388 (1q42.2q42.2)
del chr3:115404001-124892494 (3q13.31q21.1)
dup chr3:127341829-129920493 (3q21.2q21.3)
del chr3:133426459-133822407(3q22.1q22.1)
dup chr3:136891829-139071546 (3q22.3q23)
del chr3:173687986-180776184 (3q26.3126.33)
del chr5:1371093-12586305 (5p15.33p15.2)
del chr8:77643686-79802767 (8q21.11q21.12)
del chr8:115351618-115731259 (8q23.3q23.3)
del chr9:188707-27863525 (9p24.3p21.2)
del chr9:38261089-119714054 (9p13.1q33.1 )
dup chr12:2267492-5164844 (12p13.33p13.32)
del chr12:84097500-132289534 (12q21.31q24.33)
dup chr21:14429720-46912065(21q11.2q22.3)
del chr22:21044595-21570697 (22q11.22q11.22)
del chrX:32390785-154763822 (Xp21.1q28)
21.1 Mb
54.9 Mb
2.6 Mb
1.6 Mb
339 kb
10 Mb
2.6 Mb
396 kb
2.2 Mb
7.1 Mb
11.2 Mb
2.2 Mb
380 kb
27.7 Mb
81.5 Mb
2.9 Mb
48.2 Mb
Trisomy
526 kb
122 Mb
6 46,XY,t(4;13)(q31.3;q14),del(11)(q13q23)[13]/46,XY[7] nuc ish(CD82x2),(ATMx1)[20/200]
nuc ish(TP53,ERBB2)x2[199/200]
10.0
0
del chr13:46386690-49406099 (13q14.2q14.3)
del chr11:49408635-49590709 (11p11.12p11.12)
del chr3:166401814-166712788(3q26.1q26.1)
del chr11:79505241-113746962 (11q14.1q23.2)
del chr14:105267349-106339477 (14q32.33q32.33)
del chr22:21330008-21570697 (22q11.22q11.22)
3.0 Mb
182.1 kb
311 kb
34.2 Mb
1.1 Mb
241 kb
9 46,XY,del(11)(q13q23)[4]/
46,XY[16]
nuc ish(D11Z1x2),(ATMx1)[12/211]
nuc ish(DDIT3)x2[204/204]
nuc ish(D13S319x1),(LAMP1x2)[10/200]
nuc ish(CCND1,IGH@)x2[215/215]
nuc ish(TP53x2),17cen(x2)[197/200]
5.7
0
5.0
0
0
del chr11:79505241-106371868 (11q14.1q22.3)
del chr13:46386690-48065782 (13q14.2q14.2)
26.9 Mb
1.7 Mb
11§ 45,XY,t(1;6)(p34.3;p23),der(14)?inv(14)(q22q32)t(8;14)(q21.2;q32.3),psu dic(20;17)(p12;p11.2)[2]/45,sl,der(9)t(8;9)(q22;q34)[3]/44,sdl1,-4,der(18)t(4;18)(q12;p11.2)[2]/
88,sdl2x2,+9,+9,-der(9)t(8;9)(q22;q34)x2[cp5]/46,XY[8]
nuc ish(D11Z1,ATM)x4[74/213]
nuc ish(DDIT3)x4[72/250]
nuc ish(D13S319,LAMP1)x4[60/269]
nuc ish(CCND1,IGH@)x4[75/200]
nuc ish(TP53x1),17cen(x2)[55/200]
nuc ish(TP53x2),17cen(x4)[67/200]
34.7
28.8
22.3
62.5
27.5
33.5
del chr4:12959459-96181870 (4p15.33q22.3)
dup chr8:86064184-146236298 (8q21.2q24.3)
del chr13:46386690-47967723 (13q14.2q14.2)
del chr14:87377280-94457872 (14q31.3q32.13)
del chr15:34882707-41330584 (15q14q15.2)
del chr17:1-21055067 (17p13.3p11.2)
del chr18:140284-5368662 (18p11.32p11.31)
del chr20:9944-7553629 (20p13p12.3)
dup chr20:16086026-19632379 (20p12.1p11.23)
del chr22:21330008-21570697 (22q11.22q11.22)
83.2 Mb
60.2 Mb
1.6 Mb
7.1 Mb
6.5 Mb
21.1 Mb
5.23 Mb
7.5 Mb
3.6 Mb
240 kb IGL
12 47,XX,+12[2]/
47,+12,t(2;14)(p13;q32.1)[5]/46,XX[15]
nuc ish(CD82,ATM)x2[262/263]
nuc ish(pBR12,APAF1)x3 [91/200]
nuc ish(D13S319,LAMP1)x2[203/204]
nuc ish(CCND1,IGH@)x2[224/224]
nuc ish(TP53,ERBB2)x2[200/200]
0
45.5
0
0
0
dup chr12:74345-132349534 Trisomy
13 46,XY,der(1)del(1)(p21p32)t(1;11;3)(q23;q23;q23),t(1;11;3)(q23;q23;q23)[4]
Constitutional Cell Line: 46,XY[15]
nuc ish(CD82,ATM)x2[199/200]
nuc ish(MLLx2)[209/209]
nuc ish(Pbr12,APAF1)x2[200/200]
nuc ish(D13S319,LAMP1)x2[210/211]
nuc ish(TP53,ERBB2)x2[200/200]
0
0
0
0
0
del chr1:63608956-78245151 (1p31.3p31.1)
del chr1:96795246-110397675 (1p21.3p13.3)
del chr1:118792737-119283944 (1p12p12)
dup chr17:9926840-10302007 (17p13.1p13.1)
14.6 Mb
13.6 Mb
491 kb
375 kb
14§ 90 < 4n > XXYY,+3,add(9)(p13)x2,der(12)t(11;12)(q13;q24.3)x2,add(17)(p11.2)x2,-18,-18,-19[3]/
90,sl,add(1)(p32),del(?15)(q11.2)[5]/87,sdl1,-add(1)(p32),-3,-6, del(14)(q24)[2]/46,XY[10]
nuc ish(CD82x4),(ATMx6)[112/219]
nuc ish(pBR12,APAF1)x2[65/243]
nuc ish(pBR12,APAF1)x4[178/243]nuc nuc
nuc ish(D13S319,LAMP1)x4[135/208]
nuc ish(CCND1x6)[13/220]
nuc ish(CCND1x6),(IGH@x4)[127/220]
nuc ish(TP53x2),(ERBB2x4)[139/200]
nuc ish(CCND1,IGH@)x2[112/200]
IGH break-apart showed 15.5% with normal pattern (2F), 6.2% with a 4F pattern, 55.9%
with 2F/2R pattern, 22.4% with a 2F/1R (sdl 2) pattern.
51.1
73.3
64.9
5.9
57.7
69.5
dup chr11:66842920-134431368 (11q13.1q25)
del chr17:1-22098241 (17p13.3p11.2)
del chr1:912529-45151506 (1p36.33p34.1)
dup chr2:44073-64590503 (2p25.3p14)
dup chr3:46141-199230435
dup chr8:117699992-120401821 (8q23.3q24.1)
del chr9:22407649-22847775 (9p21.3p21.3)
dup chr10:3607230-9585338 (10p15.2p14)
del chr12:122218562-132289534 (12q24.31q24.33)
del chr14:105267349-106339477 (14q32.33q32.33)
del chr15:22577151-100126412
del chr18:140284-46969866 (18p11.32q21.2)
del chr19:211754-63770533
67.6 Mb
22.1 Mb
44.2 Mb
65.5 Mb
Trisomy
2.7 Mb
440 kb
6.0 Mb
10.1 Mb
1.1 Mb
Monosomy
46.8 Mb
Monosomy
15 46,XY,del(11)(q21q23)[3]/
46,XY[24]
nuc ish(D13S319,LAMP1)x2[99/200]
nuc ish(CD82x2),(ATMx1)[14/200]
0
7.0
del chr11:90736134-113746962 (11q14.3q23.2)
del chr5:141914285-145952287 (5q31.3q32)
del chr16:21509120-21698983 (16p12.2p12.2)
23.0 Mb
4.0 Mb
190 kb
19 47,XY,+12[17]/46,XY[3] nuc ish(CD82,ATM)x2[200/200]
nuc ish(pBR12,APAF1)x3[172/200]
nuc ish(D13S319,LAMP1)x2[216/216]
nuc ish(CCND1,IGH@)x2[212/212]
nuc ish(TP53,ERBB2)x2[200/200]
0
86.0
0
0
0
dup chr12:74345-132289534
del chr2:219234883-220344370 (2q35q35)
del chr14:72506787-72834048 (14q24.2q24.2)
del chr14:105267349-106339477 (14q32.33q32.33)
Trisomy
1.1 Mb
327 kb
1.1 Mb
IGH
20 46,XY,add(11)(q23)[4]/46,sl,del(2)(q13q31),del(9)(p13p22),del(11)(q21q23)[3]/46,XY,inv(12)(p13q22)[6]/46,XY[7] nuc ish(CD82x2),(ATMx1)[15/200]
nuc ish(pBR12,APAF1)x2[200/200]
nuc ish(D13S319x1),(LAMP1x2)[40/250]
nuc ish(CCND1,IGH@)x2[205/205]
nuc ish(TP53,ERBB2)x2[200/200]
nuc ish(CDKN2Ax1)[70/200]
7.5
0
16.0
0
0
35.0
del chr13:45167078-76782310 (13q14.12q22.3)
del chr9:14515097-22847775 (9p22.3p21.3)
del chr2:95110968-151785533 (2q11.1q23.3)
del chr3:46141-33554787 (3p26.3p22.3)
del chr5:110467739-115587530 (5q22.1q23.1)
del chr6:85275259-106796313 (6q14.3q21)
del chr8:345060-111175147 (8p23.3q23.2)
del chr11:100299542-118463179 (11q22.1q23.3)
del chr14:105267349-105437150 (14q32.33q32.33)
dup chr17:43041299-78654742 (17q21.32q25.3)
31.6 Mb
8.3 Mb
56.7 Mb
33.5 Mb
5.1 Mb
21.8 Mb
110.8 Mb
18.2 Mb
170 kb
35.6 Mb
21 46,XY,del(11)(q13q23)[4]/46,sl,add(2)(p23),add(3)(p25),add(8)(q24.1),add(12)(q22)[5]/45,sl,add(8)(q24.1),del(8)(p11.2p21),-13,der(22)t(13;22)(q14;p11.2)[6]/46,XY[8] nuc ish(CCND1,IGH@)x2[211/211]
nuc ish(D11Z1x2),(ATMx1)[163/207]
nuc ish(DDIT3)x2[244/244]
nuc ish(D13S319x1),(LAMP1x2)[27/200]
nuc ish(D13S319x0),(LAMP1x2)[152/200]
nuc ish(TP53x2),17cen(x2)[210/210]
0
78.7
0
13.5
76.0
0
del chr11:84811642-126916549 (11q14.1q24.2)
del chr13:46660529-49406099 (13q14.2q14.3)
del chr11:49408635-49590709 (11p11.12)
dup chr2:60466431-61759445 (2p16.1p15)
del chr6:55544176-78754776 (6p12.1q14.1)
del chr8:2530350-5909600 (8p23.2p23.2)
del chr8:39514037-39797061 (8p11.22p11.22)
del chr8:13967960-17118468 (8p22p22)
del chr8:115351618-116782788 (8q23.3q23.3)
del chr11:49408635-49590709 (11p11.12p11.12)
42.1 Mb
2.75 Mb
182.1 kb
1.3 Mb
23.2 Mb
3.4 Mb
768 kb
3.2 Mb
1.4 Mb
182 kb
22 N.D. nuc ish(D11Z1,ATM)x2[214/214] cells
nuc ish(DDIT3)x3[18/205]
nuc ish(D13S319x1),(LAMP1x2) [63/200]
nuc ish(CCND1,IGH@)x2[214/215]
nuc ish(TP53x2),17cen(x2)[199/200]
0
8.8
31.5
0
0
dup chr12:74345-132289534
del chr13:48903923-49406099 (13q14.3q14.3)
del chr6:155195287-155551631(6q25.2q25.2)
del chr14:105267349-105437150 (14q32.33q32.33)
del chr18:51018278-51378509(18q21.2q21.2)
Trisomy
502 kb
356 kb
170 Kb IGH
360 kb
23 46,XX[20] nuc ish(D11Z1,ATM)x2[234/236]
nuc ish(DDIT3)x2[222/222]
nuc ish(D13S319,LAMP1)x2[203/204]
nuc ish(CCND1,IGH@)x2[210/210]
nuc ish(TP53x2),17cen(x2)[199/200]
0
0
0
0
0
del chr22:21330008-21570697 (22q11.22q11.22) 241 kb
  1. † Nonspecific chromosome aberrations such as "add" or "del" were often redefined by the microarray results and are considered to have been detected.
  2. § Tetraploidy was not detected by microarray
  3. N.D. = Not Done
  4. Chr11 FISH [BAC 351G15 (ATM/11q22.3) and BAC 222Q13 (CD82/11p11.2) probes]
  5. Chr12 FISH [12cen (pBR12) and APAF1/12q23 (BAC 210L7) probes]
  6. Chr13 FISH [LSI D13S319 (13q14.3)/LSI LAMP1 (13q34), Vysis, Inc.]
  7. Cyclin D1/IGH@ FISH [CCND1 (11q13)/IGH (14q32.3) probe, Vysis, Inc.]
  8. Chr17 FISH [TP53 (17p13.1) BAC 199f11/ERBB2 (17q21.1) BAC 62n23 probes]
  9. MLL/11q23 FISH [LSI MLL (11q23) probe, Vysis, Inc.]
  10. MYC FISH LSI C-MYC (8q24.12-q24.13) probe Vysis, Inc.