Spontaneous chromosome breakage and rearrangement
. | Chromatid gaps and breaks/cell . | Rearrangements/cell . | Total aberrations/cell . | % cells with aberrations . |
|---|---|---|---|---|
| Kindred 1-sibling 1, skin | 1.18 | 0.98 | 2.16 | 94* |
| Kindred 1-sibling 2 | ||||
| Blood | 0.78 | 0.10 | 0.88 | 46* |
| Skin | 0.98 | 0.40 | 1.38 | 68* |
| Kindred 2-sibling 2 | ||||
| Blood | 0.24 | 0.24 | 0.48 | 40* |
| Skin | 0.20 | 0.28 | 0.48 | 44* |
| Healthy controls, blood | 0.024 | 0.004 | 0.025 | 3.59 |
| FA controls, blood | 0.254 | 0.016 | 0.269 | 23.1 |
. | Chromatid gaps and breaks/cell . | Rearrangements/cell . | Total aberrations/cell . | % cells with aberrations . |
|---|---|---|---|---|
| Kindred 1-sibling 1, skin | 1.18 | 0.98 | 2.16 | 94* |
| Kindred 1-sibling 2 | ||||
| Blood | 0.78 | 0.10 | 0.88 | 46* |
| Skin | 0.98 | 0.40 | 1.38 | 68* |
| Kindred 2-sibling 2 | ||||
| Blood | 0.24 | 0.24 | 0.48 | 40* |
| Skin | 0.20 | 0.28 | 0.48 | 44* |
| Healthy controls, blood | 0.024 | 0.004 | 0.025 | 3.59 |
| FA controls, blood | 0.254 | 0.016 | 0.269 | 23.1 |
Chromosome abnormalities were evaluated for the 3 indicated patients. For each sample, 50 G-banded metaphases were analyzed. Breaks and rearrangements were also scored for a control series of 28 DEB-confirmed FA patients and a series of 27 non-FA individuals. The subtype of these control FA patients was unknown. However, because FA-D1 is a rare subtype, accounting for less than 5% of all FA patients, few if any of these control FA patients are likely to be from subtype D1. Rearrangements included balanced translocations, derivative chromosomes, inversions, dicentrics, and rings.
For each of the 3 patients tested, the percentage of cells with aberrations fell above the upper limit of the 95% Cl for the 28 FA controls and the 27 healthy controls