Table 1.
Exons | Type of rearrangment | Reported in Hispanics | References |
---|---|---|---|
1–24 (all exons) | Del | 40, 47 | |
Promoter-1 | Del | 32 | |
Promoter-2 | Del | 32 | |
1 | Del | 19, 40 | |
2 | Del/Indel | 40, 45, 46 | |
2–3 | Del | X | 17, 32, 39 |
2–9 | Del | 45 | |
2–10 | Del | 41 | |
3–10, 14b–16 | Del | 40, 44 | |
4 | Del | 19 | |
4–6a | Del | 19, 32 | |
4–7, 11–18 | Del | 34 | |
4–8 | Dup | 40 | |
4–10 | Del | 41 | |
6b-10 | Dup | 48 | |
11–13 | Dup | 47 | |
11–16 | Del | 19 | |
14a | Del | 36 | |
14b–17b | Del | 40, 41, 45 | |
16–17b | Del | 41 | |
17a–17b | Del | 32, 45 | |
17a–18* | Del | X | 32, 37, 43, 47 |
17b | Del | 35 | |
20 | Del | X | 33 |
22–23 | Del | X | 19, 37, 47 |
22–24 | Del | X | 31, 32, 41, 46 |
24 | Del | X | 33 |
Del, genomic rearrangement involves a deletion; Dup, genomic rearrangement involves a duplication; Indel, genomic rearrangement involves an insertion and deletion.
Two different types of deletions involving exons 17a and 18 have been reported.