Table 2.
The chromosomal aberrations per 100 peripheral blood lymphocytes of 48 h culture in P1 and P2, and their parents using the M-FISH approach.
| Chromosomal abnormalities per 100 cells | Patient P1 | Patient P2 | Mother | Father |
|---|---|---|---|---|
| Total number of aberrant metaphases | 59 | 36 | 5 | 11 |
| Total number of aberrations | 90 | 43 | 7 | 13 |
| Specific centromere-region aberrations | 24 | 17 | 3 | 4 |
| Spectrum of chromosomal aberrations | ||||
| Isochromosomes | 4 | 2 | - | 1 |
| Whole arm duplication | 4 | 1 | - | - |
| Centromeric breaks | 10 | 11 | 2 | 2 |
| Chromatine despiralizations/fragmentations | 6 | 3 | 1 | 1 |
| Translocations, inversions | 5 | 2 | - | 1 |
| Dicentric/ring chromosomes | 9 | 3 | - | 1 |
| Chromosome deletions, acentrics | 28 | 11 | 1 | 5 |
| Chromatide deletions | 8 | 6 | 2 | 1 |
| Chromosome exchanges | 5 | - | - | - |
| Telomeric junctions | 1 | 1 | - | - |
| Aneuploid/polyploid cells with marker chromosomes | 10 | 3 | 1 | 1* |
*47, XXY