Table 3 Known genomic disorders identified based on CNV findings

1p36 microdeletion syndrome

1

1q21.1 duplication syndrome

3

1q43q44 microdeletion syndrome

1

2q33.1 deletion syndrome (Glass syndrome; includes SATB2)

1

2q37 deletion syndrome

4

3q29 deletion syndrome

1

Cri du chat syndrome (5p15 deletion)

1

Williams-Beuren syndrome (7q11.23 deletion)

2

Jacobsen syndrome (11q deletion syndrome)

1

Prader–Willi syndrome/Angelman syndrome (15q11q13 deletion)

2

15q11q13 duplication syndrome

8

15q13.3 deletion syndrome (includes OTUD7A and CHRNA7)

3

ART-16 syndrome (16p13.3 terminal deletion)

1

16p13.11 deletion syndrome

3

16p13.11 duplication¹

2

16p12.1 microdeletion¹

2

16p11.2p12.2 microduplication syndrome

1

Distal 16p11.2 deletion (includes SH2B1)

1

16p11.2 deletion syndrome (proximal, BP4-BP5)

3

16p11.2 duplication syndrome (proximal, BP4-BP5)

1

Potocki-Lupski syndrome (17p11.2 duplication; includes RAI1)

1

17q12 duplication syndrome

2

22q11.2 deletion syndrome (Velo‐cardio‐facial syndrome/DiGeorge syndrome)

4

22q11.2 duplication syndrome

1

Distal 22q11.2 deletion (D-E)

1

Phelan-McDermid syndrome (22q13.3 deletion; includes SHANK3)

3

Xp22.31 deletion

2