Table 1. Summary of chromosomal aberrations observed in blood lymphocyte metaphases of PALB2 c.1592delT mutation carriers and healthy controls.
Type of aberration |
Mean of chromosomal aberrations observed per 100 metaphases |
P-value* | |
---|---|---|---|
Carriers (n=6) | Controls (n=9) | ||
Telomeric associations | 0.65 (SE=0.41) | — | 0.328 |
Chromatid/chromosome breaks, deletions | 1.65 (SE=1.07) | 1.67 (SE=0.49) | 0.689 |
Simple chromosomal rearrangements† | 5.92 (SE=2.19) | 0.67 (SE=0.33) | 0.036‡ |
Complex chromosomal rearrangements§ | 2.92 (SE=1.76) | — | 0.036‡ |
Total rearrangements (simple+complex) | 8.83 (SE=3.75) | 0.67 (SE=0.33) | 0.018‡ |
*Mann–Whitney U-test.
†Inversions, ring chromosomes, translocations (≤3 break rearrangements).
‡Statistically significant P-value (<0.05).
§Translocations (≥4 break rearrangements) and marker chromosomes.