Table 1 Cytogenetic profile of mosaic structural rearrangements
Type of rearrangement | Sex | |||
|---|---|---|---|---|
Males | Females | Total | ||
Deletions | excluding del(13) associated with retinoblastoma | 20 | 45 | 65 |
del(13) associated with retinoblastoma | 5 | 8 | 13 | |
Duplications | 23 | 16 | 39 | |
Rings | apparently deleted | 11 | 15 | 47 |
no apparent deletion | 10 | 10 | ||
uncertain | 1 | |||
Unbalanced translocations | loss | 1 | 23 | |
gain | 6 | 7 | ||
gain/loss | 3 | 6 | ||
Other unbalanced rearrangements | loss | 1 | 29 | |
gain | 8 | 5 | ||
gain/loss | 5 | 10 | ||
Apparently balanced rearrangements | inversions | 2 | 1 | 13 |
reciprocal translocations | 5 | 5 | ||
Rescued rearrangementsa | loss | 1 | 3 | 17 |
gain | 5 | 2 | ||
gain/loss | 5 | 1 | ||
Total | 111 | 136 | 246 | |