Table 2 Main clinical features of patients with 13q deletions grouped according to the inclusion or exclusion of the 13q32 band.
| Features | Group 1 patients: deletions proximal to q32 | Group 2 patients: deletions including q32 | Group 3 patients: deletions distal to q32 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2 | 4 | 5 | 6 | 1 | 3 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | |
| OFC | ↑ | ↑ | ↓ | NK | — | ↓ | — | → | NK | ↓ | ↓ | ↓ | ↓ | ↓ |
| Growth | NK | ↓ | ↓ | NK | ↓ | ↓ | — | ↓ (pre‐n) | NK | ↓ | ↓ | ↓ | ↑ (post‐n) | ↓ |
| Mental retardation | Mild | — | Moderate | Severe | — | — | — | Severe | — | — | Profound | Profound | Moderate | Moderate |
| Brain anomalies | – | + | – | NK | + | – | – | + | NK | + | + | + | – | – |
| NTDs | – | – | – | – | – | – | + | – | + | – | – | – | – | – |
| Other major malformations | – | – | – | +* | +† | – | +‡ | – | – | +§ | +¶ | +** | – | – |
OFC, occipitofrontal head circumference; NTDs, neural tube defects; NK, not known; pre‐n, prenatal; post‐n, postnatal. ↓, reduced; →, normal; ↑, increased; +/–, presence/absence of the features; —, undetectable.
*Ambiguous genitalia.
†Microphthalmos.
‡Diaphragmatic hernia.
§Eye abnormalities with blindness; absent or hypoplastic thumbs; atrial and ventricular septal defects; patent ductus arteriosus; ambiguous genitalia; stenotic anus.
¶Hypoplastic thumbs; cleft lip and palate; eye abnormalities with blindness.
**Eye abnormalities with blindness.