Table 1

Rearrangements associated with inversion variants

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]

8p23^a

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

[43-45] : [42]

^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.

Feuk Genome Med 2010 2:11   doi:10.1186/gm132