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Table 1 Cytogenomics of epilepsy: chromosomal imbalances

From: Cytogenomic epileptology

Chromosomal locus/loci

Syndrome/Aberration

References

1p36

1p36 deletion syndrome

[32, 33]

1q41q42

1q41-q42 deletion syndrome

[34]

2p16.1p15

2p16.1-p15 microduplication syndrome

[35]

3q29

3q29 duplication syndrome

[35, 37]

4p

Wolf-Hirschhorn syndrome

[38]

5q14.3

5q14.3 Deletion Syndrome

[38]

6

6q microdeletions

[40]

7q11.23

Williams-Beuren region duplication syndrome

[41]

8q21.13-q22.2

8q21.13-q22.2 duplication

[42]

8q24.3

8q24.3 duplication

[43]

9q33q34

9q33-q34 microdeletion

[44,45,46]

 

9q33-q34 microduplication

 

9q34.11

9q34.11 deletions

[47]

12q22.q23.3

De novo duplication

[48]

14q12

Duplications encompassing FOXG1

[49]

14qter

Ring chromosome 14

[50, 51]

15q11.1-15q13.3

Prader-Willi syndrome

[52]

 

Angelman syndrome

[53]

15q13.3

15q13.3 microdeletion syndrome

[54, 55]

15q14

15q14 deletion

[56]

15q24

15q24.1 microdeletion and 15q24.2q24.3 duplication

[57]

16p13.11

16p13.11 deletion

[58]

17p13.3

Miller-Dieker Syndrome

[59]

17q12

17q12 duplication

[60]

18p

18p deletions

[61]

19p13.13

19p13.13 deletions

[62]

20

Ring chromosome 20

[63]

22q11.2

22q11.2 deletion

[64]

22q13.3

22q13.3 deletion

[65]

Xq13.1

Xq13 duplication

[66]

Xp22.13

Mosaic CDKL5 deletion (+ inversion)

[67]

Xq28

Microdeletion forms of Rett syndrome

[68]