Type or gene involved | Number | Mean, kb | Range, kb |
---|---|---|---|
Copy number losses : large | |||
Interstitial deletion | 18 | 5,070 | 1,048–16,837 |
Terminal deletion | 14 | 5,273 | 1,218–13,593 |
Unbalanced translocation | 15 | 7,053 | 880–17,107 |
Subtotal | 47 | ||
Copy number losses: small | |||
DOCK8 | 24 | 299 | 97–431 |
KANK1 | 3 | 369 | 184–670 |
DOCK8 and KANK1 | 3 | 419 | 75–676 |
EHMT1 | 16 | 417 | 22–790 |
ASTN2 | 4 | 150 | 78–271 |
FREM1 | 2 | 369 | 166–573 |
STXBP1 | 1 | 592 | NA |
COL5A1 | 1 | 370 | NA |
GLDC | 1 | 50 | 25–75 |
TOPORS | 1 | 337 | NA |
CDK5RAP2 | 1 | 74 | NA |
Subtotal | 57 | ||
Large copy number gains | |||
Trisomy 9p/proximal 9q | 15 | 45,996 | 13,826–95,453 |
9q duplications | 6 | 12,172 | 6,277–18,399 |
Unbalanced translocation | 4 | 25,717 | 6,794–68,089 |
Tetrasomy 9q and proximal 9q due to isochromosome | 3 | 66,477 | 49,843–81,113 |
Trisomy 9 | 2 | 140,833 | NA |
Triplication | 1 | 15,972 | NA |
Subtotal | 31 | ||
Complex chromosomal rearrangements (CCRs) | |||
Inverted duplication with terminal deletion of 9p | 3 | Deletion: 6,377; Duplication: 32,271 | |
Inverted duplication with terminal deletion of 9q | 1 | Deletion: 161; Duplication: 3,127 | |
Multiple deletion and duplication | 2 | Losses: 1091; Gains: 12,517 | |
Chromothripsis | 1 | Loss: 134; Gains: 21,094 | |
Subtotal | 7 | ||
Total | 142 |