Table 1.
Clinical features of 21 patients with 22q11.2 deletion syndrome evaluated in our institution compared to the patient with t(6;22)
| Clinical features | Patients with deletiona (n = 21) | Our study |
|---|---|---|
| Congenital heart disease | 14/21 | + |
| Hypotonia | 7/19 | + |
| Asymetrie face | 5/21 | + |
| Ophtalmologic abnormalities | 2/17 | not evaluated |
| Downslanting palpebral fissures | 2/18 | + |
| Overfolded helices | 10/20 | – |
| Hearing loss | 8/18 | + |
| Prominent nasal bridge | 9/21 | – |
| Bulbous nasal tip | 9/21 | – |
| Hypoplastic nasal alae | 7/21 | – |
| Cleft palate | 5/21 | – |
| Velopharyngeal insufficiency | 11/21 | + |
| Hypernasal speech | 10/18 | + |
| Downturned oral commissures | 8/18 | + |
| Long and thin fingers | 15/21 | + |
| Hypocalcemia | 5/19 | + |
| Lymphopenia | 2/19 | – |
| Hypothyroidism | 3/18 | – |
| Thrombocytopenia | 0/18 | not evaluated |
| Thymus abnormalities | 1/4 | + |
| Lack of sociability | 11/18 | – |
| Learning disabilities | 15/19 | + |
| Psychiatric disorders | 3/18 | – |
a
Number of patients with the condition/number of patients evaluated.