From: Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR
Dx | No subjects | Gender | Age range | Deletion | Severity | Phenotypes | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  |  |  | Range | Type |  | IQn = 78 | ADHDn = 79 | Seizuresn = 79 | CHDn = 80 | Hypocalcemian = 78 | Thyroid abnormalitiesn = 79 |
22q | 80 | M = 48 F = 32 | M = 7-15 F = 8-15 | PRODH-D22S936 | 3 Mb deletion | Normal | 45 (58%) | 47 (59%) | 59 (75%) | 38 (47%) | 50 (64%) | 62 (78%) |
Abnormal | 27 (35%) | 26 (33%) | 14 (18%) | 36 (45%) | 22 (28%) | 11 (14%) | ||||||
PRODH-DGCR6L | 1.5 Mb deletion | Normal | 1 (1.3%) | 0 | 2 (2.5%) | 2 (2.5%) | 3 (4%) | 3 (4%) | ||||
Abnormal | 2 (3%) | 3 (4%) | 1 (1.3%) | 1 (1.3%) | 0 | 0 | ||||||
TUPLE1-SHGC-2421 | Atypical deletion | Normal | 1 (1.3%) | 0 | 0 | 0 | 0 | 1 (1.3%) | ||||
Abnormal | 0 | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 0 | ||||||
TUPLE1-D22S936 | Atypical deletion | Normal | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | ||||
Abnormal | 0 | 0 | 0 | 0 | 0 | 0 | ||||||
ZNF74-D22S936 | Atypical deletion | Normal | 0 | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | 1 (1.3%) | ||||
Abnormal | 1 (1.3%) | 0 | 0 | 0 | 0 | 0 | ||||||
TD | 15 | M = 8 F = 7 | M = 8-14 F = 9-13 | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |