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Table 1 Summary of clinical features found in individuals with common-sized 3q29 microdeletion in this and previous studies.
| Feature | Number of individuals in present study with feature | Number of individuals in previous reports with feature | Number of individuals reported to date with feature/Number of individuals reported to datea |
|---|---|---|---|
| Mild/moderate mental retardation | 7 | 8 | 15/15 |
| Long, narrow face | 0 | 3 | 3/15 |
| Short philtrum | 0 | 6 | 6/15 |
| High nasal bridge | 4 | 5 | 9/15 |
| Large, low-set, posteriorly rotated ears | 4 | 1 | 5/15 |
| Speech delay | 3 | 5 | 8/15 |
| Delayed walking | 2 | 5 | 7/15 |
| Autism/autistic features | 1 | 3 | 4/15 |
| Chest-cavity deformities | 1 | 2 | 3/15 |
| Ataxic gait/gait abnormalities | 2 | 3 | 5/15 |
| Long, tapering fingers | 0 | 3 | 3/15 |
| Microcephalya | 5 | 2 | 7/15 |
| Macrocephaly | 1 | 0 | 1/15 |
| Cleft lip/palate | 0 | 1 | 1/15 |
| High-arched palate | 2 | 0 | 2/15 |
| Widely spaced teeth | 2 | 0 | 2/15 |
| Recurrent middle ear infections | 1 | 1 | 2/15 |
| Ligamentous laxity | 0 | 1 | 1/15 |
| Abnormal skin pigmentation | 0 | 1 | 1/15 |
| Horseshoe kidney | 0 | 1 | 1/15 |
| Hypospadias | 1 | 1 | 2/15 |
| Nasal voice | 1 | 1 | 2/15 |
| Six lumbar vertebrae | 0 | 1 | 1/15 |
| Cerebral sigmoid venous thrombosis | 0 | 1 | 1/15 |
