Presence and size of “driver” CNAs and associated genes in twin pairs
| Cytoband . | Size of CNA (Mb)* . | Gene(s) in region . | Reported in karyotype† . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Twin set 1 . | Twin set 2 . | Twin set 3 . | Twin set 4 . | Twin set 5 . | ||||||||
| 1a . | 1b . | 2a . | 2b . | 3a . | 3b . | 4a . | 4b . | 5a . | 5b . | |||
| Deletions | ||||||||||||
| 1p32.3−pter | No CNA | 55.0 | Many | No | ||||||||
| 3q13.2 | No CNA | 0.147 | CD200/BTLA | No | ||||||||
| 3q26.32 | No CNA | 0.28 | TBL1XR1 | No | ||||||||
| 5q21.1−q35.3 | No CNA | 79.1 | Many, including EBF1 | No | ||||||||
| 6p22.1 | 0.147 | No CNA | HIST1H2 | No | ||||||||
| 6q15−q27 | No CNA | 79.5 | Many | No | ||||||||
| 7q34−q35 | No CNA | 6.1 | Many | No | ||||||||
| 9p | All 9p¶ | No CNA | Whole arm | Yes | ||||||||
| 9p13.2 | 0.248 | 0.436 | PAX5 + ZCCHC7 | No | ||||||||
| 9p21.3 | 1.39¶ | No CNA | CDKN2A, CDKN2B | No | ||||||||
| 12p | 8.98‡ | 20.7‡ | 27.1¶ | No CNA | 22.3 | No CNA | 20.7 | Many, including ETV6 | Yes | |||
| 12p13 | 0.866‡§ | 0.866‡§ | 4.44¶ | 9.96 | 6.5 | 0.259 | No CNA | Many including ETV6 | Yes | |||
| 13q12.3−q34 | 83.5 | 81.2 | Many, including RB1 | No | ||||||||
| 21q22.3−qter | 4.9 | No CNA | Many (not including RUNX1) | No | ||||||||
| Gains | ||||||||||||
| 5pter−q21.1 | no CNA | 101.4 | Many | No | ||||||||
| 6pter−q15 | no CNA | 91.3 | Many | No | ||||||||
| All 10 | All 10 | No CNA | Many | Yes | ||||||||
| 15q14−q15.1 | No CNA | 4.2 | Many including LTK | No | ||||||||
| 21q | All 21q | No CNA | No CNA | 19.8 | No CNA | 20.8 | Many, including RUNX1 | Yes | ||||
| Cytoband . | Size of CNA (Mb)* . | Gene(s) in region . | Reported in karyotype† . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Twin set 1 . | Twin set 2 . | Twin set 3 . | Twin set 4 . | Twin set 5 . | ||||||||
| 1a . | 1b . | 2a . | 2b . | 3a . | 3b . | 4a . | 4b . | 5a . | 5b . | |||
| Deletions | ||||||||||||
| 1p32.3−pter | No CNA | 55.0 | Many | No | ||||||||
| 3q13.2 | No CNA | 0.147 | CD200/BTLA | No | ||||||||
| 3q26.32 | No CNA | 0.28 | TBL1XR1 | No | ||||||||
| 5q21.1−q35.3 | No CNA | 79.1 | Many, including EBF1 | No | ||||||||
| 6p22.1 | 0.147 | No CNA | HIST1H2 | No | ||||||||
| 6q15−q27 | No CNA | 79.5 | Many | No | ||||||||
| 7q34−q35 | No CNA | 6.1 | Many | No | ||||||||
| 9p | All 9p¶ | No CNA | Whole arm | Yes | ||||||||
| 9p13.2 | 0.248 | 0.436 | PAX5 + ZCCHC7 | No | ||||||||
| 9p21.3 | 1.39¶ | No CNA | CDKN2A, CDKN2B | No | ||||||||
| 12p | 8.98‡ | 20.7‡ | 27.1¶ | No CNA | 22.3 | No CNA | 20.7 | Many, including ETV6 | Yes | |||
| 12p13 | 0.866‡§ | 0.866‡§ | 4.44¶ | 9.96 | 6.5 | 0.259 | No CNA | Many including ETV6 | Yes | |||
| 13q12.3−q34 | 83.5 | 81.2 | Many, including RB1 | No | ||||||||
| 21q22.3−qter | 4.9 | No CNA | Many (not including RUNX1) | No | ||||||||
| Gains | ||||||||||||
| 5pter−q21.1 | no CNA | 101.4 | Many | No | ||||||||
| 6pter−q15 | no CNA | 91.3 | Many | No | ||||||||
| All 10 | All 10 | No CNA | Many | Yes | ||||||||
| 15q14−q15.1 | No CNA | 4.2 | Many including LTK | No | ||||||||
| 21q | All 21q | No CNA | No CNA | 19.8 | No CNA | 20.8 | Many, including RUNX1 | Yes | ||||
CNA indicates copy number alteration.
No CNA indicates no copy number alteration detected.
Abnormality reported by conventional karyotyping and/or FISH.
CNA consisting of large deletion on one chromosome homologue and a smaller deletion on the second homologue.
Identical sized focal deletion presumed to occur at the same time as the ETV6-RUNX1 rearrangement.
Deletion appeared subclonal.