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Table 1 Rearrangements associated with inversion variants

From: Inversion variants in the human genome: role in disease and genome architecture

Chromosome band Inversion size (Mb) Disorder/rearrangement Reference (syndrome : inversion)
3q29 1.9 3q29 deletion syndrome [49] : [7]
5q35.2-q35.3* 1.9 Sotos syndrome microdeletion [50] : [51]
7q11.23* 1.5 Williams-Beuren syndrome microdeletion [52] : [40]
8p23a 4.7 Inv dup(8p) and del (8)(p23.1;p23.2) [53, 54] : [32, 55]
15q11-q13* 4 Angelman syndrome deletion [56] : [57]
15q13.3* 2 15q13.3 microdeletion [58] : [6, 58]
15q24 1.2 15q24 microdeletion [44, 59] : [6]
17q12 1.5 Renal cysts and diabetes (RCAD) microdeletion syndrome [60] : [6]
17q21.31* 0.9 17q21.31 microdeletion syndrome [4345] : [42]
  1. aThe inversion has been found at higher frequency in parents of probands with microdeletions than in the general population, indicating that the inversion is a risk factor for subsequent rearrangements in the offspring.