From: Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
Second generation | Parents | ||
---|---|---|---|
Total number of subjects | 32 | 26 | |
N (%) | N (%) | p | |
Facial anomalies | 29 (90.6) | 24 (92.3) | 1 |
Congenital heart defect | 20 (62.5) | 2 (7) | <0.0001 |
Ca-P abnormalities | 12 (37.5) | 1 (3.8) | 0.0033 |
Palatal anomalies | 18 (56.2) | 13 (50) | 0.79 |
ENT anomalies | 4 (12.5) | 2 (7) | 0.68 |
Renal disorders | 7 (21.8) | 2 (7) | 0.16 |
Ocular disorders | 1 (3.1) | 6 (23) | 0.037 |
Neurological disorders | 3 (9.3) | 1 (3.8) | 0.62 |
Dental anomalies | 8 (25) | 10 (38.4) | 0.39 |
Skeletal anomalies | 15 (46.8) | 10 (38.4) | 0.6 |
Gastrointestinal disorders | 8 (25) | 2 (7) | 0.16 |
Psychiatric disorders | 4 (12.5) | 9 (34.6) | 0.06 |
Language delay | 24 (75) | 12 (46.1) | 0.031 |
Developmental delay | 23 (71.8) | 11 (42.3) | 0.032 |
Learning difficulty | 23 (71.8) | 16 (61.5) | 0.57 |
Autoimmunity | 4 (12.5) | 5 (19.2) | 0.71 |
Infections | 9 (28.1) | 3 (11.5) | 0.19 |