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Table 3 Known genomic disorders identified based on CNV findings

From: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

Chromosomal disorder Number identified
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
  1. 1Reported in Decipher but with lesser evidence reported in ClinGen; these PDV were reclassified as not potentially damaging in the additional analysis