Table 1.
Reported microdeletions or microduplications in chromosomal 22q11.2.
| LCR | Chromosome physical location (hg19) | OMIM syndrome | Haploinsufficiency/Triplosensitivity score a | Classification of pathogenicity | |
|---|---|---|---|---|---|
| 22q 11.2 microdeletion | |||||
| Proximal | A-B/D | 18,912,231-20,287,208/21,465,672 | Chromosome 22q11.2 deletion syndrome: DGS (#188400) or VCFS (# 192430) | 3 | Pathogenic |
| Central | B/C-D | 20,731,986-21,465,672 | / | 2 | VOUS-LP |
| Distal Type I | D-E/F | 21,917,117-23,649,111 | Chromosome 22q11.2 deletion syndrome, distal (#611867) | 3 | Pathogenic |
| Type II | E-F | 23,119,414-23,649,111 | / | 2 | VOUS-LP |
| Type III | F-G | 23,831,202-24,632,821 | / | NA | VOUS |
| E-H | 23,119,414-24,994,433 | / | NA | VOUS | |
| D-H | 21,917,117-24,994,433 | Chromosome 22q11.2 deletion syndrome, distal (#611867) | NA | Pathogenic | |
| 22q11.2 microduplication | |||||
| Proximal | A-B/D | 18,912,231-20,287,208/21,465,672 | Chromosome 22q11.2 duplication syndrome (#608363) | 3 | Pathogenic |
| Central | B/C-D | 20,731,986-21,465,672 | / | 1 | VOUS |
| Distal Type I | D-E/F | 21,917,117-23,649,111 | / | 3 | Pathogenic |
| Type II | E-F | 23,119,414-23,649,111 | / | 1 | VOUS |
| Type III | F-G | 23,831,202-24,632,821 | / | NA | VOUS |
| E-H | 23,119,414-24,994,433 | / | NA | VOUS | |
| D-H | 21,917,117-24,994,433 | / | NA | Pathogenic | |
a
Haploinsufficiency score (for deletions) and triplosensitivity score (for duplications) of the region curated in the ClinGen Dosage Sensitivity Map (https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen).
LCR, low copy repeats; DGS, DiGeorge syndrome; VCFS, velocardiofacial syndrome; NA, not available; VOUS, variant of unknown significance; LP, likely pathogenic; OMIM, Online Mendelian Inheritance in Man (www.omim.org).