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. 2008 Jul;10(4):368–375. doi: 10.2353/jmoldx.2008.080004

Table 1.

CFTR Rearrangements Involving Exons

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.