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 |