Table 1.
Clinical findings presented by the patient compared to frequencies described in the literature for 22q11DS
Clinical features | Patient | 22q11DS* |
% | ||
Neuropsychomotor delay | + | 68-96 |
Speech delay | + | 11-92 |
Seizures | - | 21-40 |
Psychiatric disorder | + | 9-58 |
Congenital heart defect | - | 26-75 |
Hearing loss | + | 28-39 |
Cleft palate | - | 9-31 |
Immunodeficiency | - | 40-95 |
Hypocalcemia | - | 15-64 |
Renal disorders | - | 2-36 |
Thrombocytopenia | + | 12-28 |
* Rosa et al. (1)