FISH Data and Corresponding CGH Karyotypes
| Case . | . | FISH Data* . | (%) . | CGH Karyotype† . |
|---|---|---|---|---|
| 1 | 3q26: | ≥3 signals | (26) | rev ish enh(3q12q29)‡ |
| 2 | 11q22.3-23.1: | ≥3 signals | (21) | rev ish enh(11q13q25)‡ |
| 4 | hyperploidy (mean): | rev ish enh(5q33q35,12q23q24.2), dim(4q25q35,6q12q24,13q14q31) | ||
| (33% dipl.; 20% tripl.; 44.5% tetrapl.) | ||||
| 6q21: | 2 signals | (92) | ||
| 9p21 (p16): | 2 signals | (60.5) | ||
| 13q14: | 2 signals | (89) | ||
| 17p13 (p53): | 2 signals | (56.5) | ||
| 1 signal | (38) | |||
| 5 | 11q22.3-23.1: | ≥3 signals | (61) | rev ish enh(2q35q37,11q13q23) |
| 17p;13 (p53): | ≤1 signal | (58) | ||
| 6 | 3q26: | ≥3 signals | (77) | rev ish enh(1q21q25,3q25q27,9p24p22,11q13q25), dim(Xp22.3p11.2), amp(5p15,9q33) |
| 11q22.3-23.1: | ≥3 signals | (80) | ||
| 9p21 (p16): | ≥3 signals | (78) | ||
| 17p13 (p53): | ≤1 signal | (88.5) | ||
| 8 | 6q21: | ≤1 signal | (46.5) | rev ish dim(6q13q21) |
| 10 | 11q22.3-23.1: | ≥3 signals | (55) | rev ish enh(9q22q34,11q21q25‡) |
| 11 | 6q21: | ≤1 signal | (65) | rev ish enh(2p23p16),dim(6q12q24) |
| 17p13 (p53): | ≤1 signal | (15.5) | ||
| 12 | 3q26: | ≥3 signals | (12) | rev ish enh(8q24.1q24.2,11p15,11q12q24,16p13.3p13.2) |
| 11q22.3-23.1: | ≥3 signals | (41.5) | dim(6q25q26),amp(12p12p13,16q23q24) | |
| 13q14: | ≥3 signals | (40) | ||
| 13 | 11q22.3-23.1: | ≥3 signals | (37.5) | rev ish enh(11q23q24),dim(13q14q31) |
| 13q14: | ≤1 signal | (21) | ||
| t(14;18) | (6) | |||
| 14 | 17p13 (p53): | ≤1 signal | (13.5) | rev ish enh(1p32p43,12q24.1q24.3),dim(2q14.1q34,5q14q23),amp(2p14) |
| 16 | 3q26: | ≥3 signals | (13.5) | rev ish dim(2q21q36,6q13q25),amp(8q23q24.3) |
| p16: | ≥3 signal | (16) | ||
| 11q22.3-23.1: | ≥3 signals | (13.5) | ||
| 21 | 13q14: | ≤1 signal | (13.5) | — |
| 22 | 11q22.3-23.1: | ≥3 signals | (34.5) | rev ish enh(11q23q24)‡ |
| 13q14: | ≤1 signal | (13.5) | rev ish dim(13q22q32)‡ | |
| 23 | 17p13 (p53): | ≤1 signal | (24.5) | — |
| 24 | 9p21 (p16): | ≥3 signals | (42.5) | |
| 25 | 11q22.3-23.1: | ≥3 signals | (13.5) | — |
| 28 | t(11;14) | (9) | rev ish enh(12,16q23q24),dim(Xq13q21) | |
| 29 | 6q21: | ≤1 signal | (67.5) | rev ish enh(12),dim(6q21q23) )‡ |
| Case . | . | FISH Data* . | (%) . | CGH Karyotype† . |
|---|---|---|---|---|
| 1 | 3q26: | ≥3 signals | (26) | rev ish enh(3q12q29)‡ |
| 2 | 11q22.3-23.1: | ≥3 signals | (21) | rev ish enh(11q13q25)‡ |
| 4 | hyperploidy (mean): | rev ish enh(5q33q35,12q23q24.2), dim(4q25q35,6q12q24,13q14q31) | ||
| (33% dipl.; 20% tripl.; 44.5% tetrapl.) | ||||
| 6q21: | 2 signals | (92) | ||
| 9p21 (p16): | 2 signals | (60.5) | ||
| 13q14: | 2 signals | (89) | ||
| 17p13 (p53): | 2 signals | (56.5) | ||
| 1 signal | (38) | |||
| 5 | 11q22.3-23.1: | ≥3 signals | (61) | rev ish enh(2q35q37,11q13q23) |
| 17p;13 (p53): | ≤1 signal | (58) | ||
| 6 | 3q26: | ≥3 signals | (77) | rev ish enh(1q21q25,3q25q27,9p24p22,11q13q25), dim(Xp22.3p11.2), amp(5p15,9q33) |
| 11q22.3-23.1: | ≥3 signals | (80) | ||
| 9p21 (p16): | ≥3 signals | (78) | ||
| 17p13 (p53): | ≤1 signal | (88.5) | ||
| 8 | 6q21: | ≤1 signal | (46.5) | rev ish dim(6q13q21) |
| 10 | 11q22.3-23.1: | ≥3 signals | (55) | rev ish enh(9q22q34,11q21q25‡) |
| 11 | 6q21: | ≤1 signal | (65) | rev ish enh(2p23p16),dim(6q12q24) |
| 17p13 (p53): | ≤1 signal | (15.5) | ||
| 12 | 3q26: | ≥3 signals | (12) | rev ish enh(8q24.1q24.2,11p15,11q12q24,16p13.3p13.2) |
| 11q22.3-23.1: | ≥3 signals | (41.5) | dim(6q25q26),amp(12p12p13,16q23q24) | |
| 13q14: | ≥3 signals | (40) | ||
| 13 | 11q22.3-23.1: | ≥3 signals | (37.5) | rev ish enh(11q23q24),dim(13q14q31) |
| 13q14: | ≤1 signal | (21) | ||
| t(14;18) | (6) | |||
| 14 | 17p13 (p53): | ≤1 signal | (13.5) | rev ish enh(1p32p43,12q24.1q24.3),dim(2q14.1q34,5q14q23),amp(2p14) |
| 16 | 3q26: | ≥3 signals | (13.5) | rev ish dim(2q21q36,6q13q25),amp(8q23q24.3) |
| p16: | ≥3 signal | (16) | ||
| 11q22.3-23.1: | ≥3 signals | (13.5) | ||
| 21 | 13q14: | ≤1 signal | (13.5) | — |
| 22 | 11q22.3-23.1: | ≥3 signals | (34.5) | rev ish enh(11q23q24)‡ |
| 13q14: | ≤1 signal | (13.5) | rev ish dim(13q22q32)‡ | |
| 23 | 17p13 (p53): | ≤1 signal | (24.5) | — |
| 24 | 9p21 (p16): | ≥3 signals | (42.5) | |
| 25 | 11q22.3-23.1: | ≥3 signals | (13.5) | — |
| 28 | t(11;14) | (9) | rev ish enh(12,16q23q24),dim(Xq13q21) | |
| 29 | 6q21: | ≤1 signal | (67.5) | rev ish enh(12),dim(6q21q23) )‡ |
*FISH data: The chromosomal map position of the DNA probes and the percentage of cells with the respective signal number are listed.
CGH-karyotype: CGH results are described according to the ISCN nomenclature; rev ish refers to reverse in situ hybridization, enh (enhanced) and dim (diminished) indicate gains or losses of chromosomal material in the indicated region and amp refers to amplification. Bold karyotypes indicate correspondence of FISH and CGH results. Double daggers (‡) mark CGH karyotypes, which showed a clear shift toward overrepresentation or underrepresentation; however the diagnostic thresholds were not reached (see also Fig 2).