Recurrent genomic alterations detected by SNP-A and in combination with MLPA
| Chromosome . | Genomic position . | Copy number . | Candidate genes . | Frequency (SNP-A) n/(%) . | Final frequency (SNP-A + MLPA) n/(%) . |
|---|---|---|---|---|---|
| 7p12.2 | 50433798-50449506 | 0/1 | IKZF1 | 72/(74) | 74/(76) |
| 9p21.3 | 21976218-21993223 | 0/1 | CDKN2A/B | 41/(42) | 44/(45) |
| 9q34.12; 22q11.21 | t(9;22) | 1/3 | Unbalanced BCR-ABL breakpoints | 40/(41) | — |
| 9p13.2 | 36920536-37014122 | 1 | PAX5 | 39/(40) | 42/(43) |
| 12q21.33 | 90806299-91060957 | 1 | BTG1 | 14/(14) | 17/(18) |
| 13q14.2 | 47885033-47960991 | 0/1 | RB1 | 13/(13) | 14/(14) |
| 21p11.2-q22.3 | Trisomy 21 | 3 | — | 13/(13) | — |
| 7p22.2-7q36.3 | Monosomy 7 | 1 | — | 12/(12) | — |
| 5q33.3 | 158373754-158464289 | 1 | EBF1 | 11/(11) | 12/(12) |
| 15q12 | 23587298-23635904 | 0/1 | ATP10A | 11/(11) | — |
| 4p16.3-q35.2 | Trisomy 4 | 3 | — | 10/(10) | — |
| 14q11.2-q32.33 | Trisomy/quatrosomy 14 | 3/4 | — | 10/(10) | — |
| 1q31.3 | 197072462-197162608 | 1 | MIR181A1/B1 | 9/(9) | — |
| 6p25.3-q27 | Trisomy 6 | 3 | — | 9/(9) | — |
| 8p23.3-q22.3 | Trisomy 8 | 3 | — | 8/(8) | — |
| 3q13.2 | 113640344-113678765 | 0/1 | BTLA/CD200 | 7/(7) | — |
| 2q32.3 | 196692024-196804136 | 1 | HECW2, STK17B | 7/(7) | — |
| 5p15.33-q35.3 | Trisomy 5 | 3 | — | 7/(7) | — |
| 20p12.2 | 10365416-10404586 | 0/1 | C20orf94 | 6/(6) | — |
| 2p25.3-q37.3 | Trisomy 2 | 3 | — | 6/(6) | — |
| 18p11.23-q23 | Trisomy 18 | 3 | — | 6/(6) | — |
| Xp22.33-q28 | Trisomy/quatrosomy X | 3 | — | 6/(6) | — |
| 12p13.2 | 11767661-11830795 | 1 | ETV6 | 5/(5) | 5/(5) |
| 17p13.3-q25.3 | Trisomy 17 | 3 | — | 5/(5) | — |
| 3p14.2 | 60037676-60351480 | 1 | FHIT | 4/(4) | — |
| 5q14.3 | 88090048-88251350 | 1 | MEF2C | 4/(4) | — |
| 10p15.3-q26.3 | Trisomy 10 | 3 | — | 4/(4) | — |
| Chromosome . | Genomic position . | Copy number . | Candidate genes . | Frequency (SNP-A) n/(%) . | Final frequency (SNP-A + MLPA) n/(%) . |
|---|---|---|---|---|---|
| 7p12.2 | 50433798-50449506 | 0/1 | IKZF1 | 72/(74) | 74/(76) |
| 9p21.3 | 21976218-21993223 | 0/1 | CDKN2A/B | 41/(42) | 44/(45) |
| 9q34.12; 22q11.21 | t(9;22) | 1/3 | Unbalanced BCR-ABL breakpoints | 40/(41) | — |
| 9p13.2 | 36920536-37014122 | 1 | PAX5 | 39/(40) | 42/(43) |
| 12q21.33 | 90806299-91060957 | 1 | BTG1 | 14/(14) | 17/(18) |
| 13q14.2 | 47885033-47960991 | 0/1 | RB1 | 13/(13) | 14/(14) |
| 21p11.2-q22.3 | Trisomy 21 | 3 | — | 13/(13) | — |
| 7p22.2-7q36.3 | Monosomy 7 | 1 | — | 12/(12) | — |
| 5q33.3 | 158373754-158464289 | 1 | EBF1 | 11/(11) | 12/(12) |
| 15q12 | 23587298-23635904 | 0/1 | ATP10A | 11/(11) | — |
| 4p16.3-q35.2 | Trisomy 4 | 3 | — | 10/(10) | — |
| 14q11.2-q32.33 | Trisomy/quatrosomy 14 | 3/4 | — | 10/(10) | — |
| 1q31.3 | 197072462-197162608 | 1 | MIR181A1/B1 | 9/(9) | — |
| 6p25.3-q27 | Trisomy 6 | 3 | — | 9/(9) | — |
| 8p23.3-q22.3 | Trisomy 8 | 3 | — | 8/(8) | — |
| 3q13.2 | 113640344-113678765 | 0/1 | BTLA/CD200 | 7/(7) | — |
| 2q32.3 | 196692024-196804136 | 1 | HECW2, STK17B | 7/(7) | — |
| 5p15.33-q35.3 | Trisomy 5 | 3 | — | 7/(7) | — |
| 20p12.2 | 10365416-10404586 | 0/1 | C20orf94 | 6/(6) | — |
| 2p25.3-q37.3 | Trisomy 2 | 3 | — | 6/(6) | — |
| 18p11.23-q23 | Trisomy 18 | 3 | — | 6/(6) | — |
| Xp22.33-q28 | Trisomy/quatrosomy X | 3 | — | 6/(6) | — |
| 12p13.2 | 11767661-11830795 | 1 | ETV6 | 5/(5) | 5/(5) |
| 17p13.3-q25.3 | Trisomy 17 | 3 | — | 5/(5) | — |
| 3p14.2 | 60037676-60351480 | 1 | FHIT | 4/(4) | — |
| 5q14.3 | 88090048-88251350 | 1 | MEF2C | 4/(4) | — |
| 10p15.3-q26.3 | Trisomy 10 | 3 | — | 4/(4) | — |