Table 3.
Genomic diseases resulting from recurrent genomic rearrangements
| Rearrangement | Type | Recombination substrates | |||
|---|---|---|---|---|---|
| Repeat size | Identity (%) | Orientation | Type | ||
| Inv dup(15)(q11q13) | Inverted dup | >500 | C | ||
| Inv dup(22)(q11.2) | Inverted dup | ~225–400 | 97–98 | C | |
| Idic(X)(p11.2) | Isodicentric | I? | |||
| Inv dup(8)(pterp23.1::p23.2pter); Del(8)(p23.1p23.2) | inv/dup/del | ~400 | 95–97 | I | Olfactory receptor gene cluster |
| dup(15)(q24q26) | dup | ~13–60 | ? | ||
del, deletion; dup, duplication; inv, inversion; D, direct; C, complex; I, inverted