Table 1. Spontaneous chromosomal instability in peripheral blood cells from two unrelated patients with a Rothmund-Thomson-like phenotype.
| Patients | Controls | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Observed aberrations | Patient A | Patient B | Controls total | Parents of patient A | Parents of patient B | Control 1 | Control 2 | ||
| Mother | Father | Mother | Father | ||||||
| Chromatid Gaps | 7 | 4 | 19 | 1 | 2 | 5 | 3 | 5 | 3 |
| Chromatid Breaks | 1 | 0 | 5 | 1 | 0 | 3 | 0 | 0 | 1 |
| Chromosome Gaps | 1 | 4 | 6 | 1 | 0 | 2 | 0 | 2 | 1 |
| Chromosome Breaks | 4 | 3 | 4 | 1 | 1 | 1 | 1 | 0 | 0 |
| Total aberrations | 13 | 11 | 34 | 4 | 3 | 11 | 4 | 7 | 5 |
| No. scored metaphases | 52 | 51 | 318 | 50 | 54 | 53 | 56 | 54 | 51 |
| Aberrations/ metaphase | 0.25* | 0.22* | 0.11* | 0.08 | 0.06 | 0.21 | 0.07 | 0.13 | 0.10 |
* Significant at p < .05 at the chi-square test