Summary of each type of subtelomere abnormality identified in this study and the inheritance patterns observed when parental studies were performed
| Abnormality | Parent same | Parent balanced | ||||||
|---|---|---|---|---|---|---|---|---|
| Total | Variant* | Inheritance known | De novo | Father | Mother | Father | Mother | |
| *Variants include both known familial variants as well as possible variants; †no parental studies were available for the insertion or translocation patients. | ||||||||
| Deletion | ||||||||
| Terminal | 175 | 18 | 60 | 48 | 7 | 5 | 0 | 0 |
| Partial | 19 | 19 | 10 | 1 | 3 | 6 | 0 | 0 |
| Interstitial | 9 | 0 | 2 | 2 | 0 | 0 | 0 | 0 |
| Duplication | 4 | 3 | 1 | 0 | 0 | 1 | 0 | 0 |
| Derivative | ||||||||
| Duplication and deletion | 108 | 0 | 42 | 15 | 0 | 1 | 10 | 16 |
| Duplication only | 20 | 13 | 12 | 1 | 2 | 7 | 1 | 1 |
| Duplication onto acrocentric p arm | 17 | 3 | 9 | 6 | 0 | 2 | 0 | 1 |
| Insertion† | 1 | 0 | ||||||
| Translocation | 4 | 0 | ||||||
| Total | 357 | 56 | 136 | 73 | 12 | 22 | 11 | 18 |