Table 1.
The prevalence of the most common clinical features reported from literature, database, and presented case.
| Phenotype | Prevalence | |
|---|---|---|
| 7p21.3 | Intellectual disability | 40% |
| Craniosynostosis | 14% | |
| Developmental delay and/or | 12% | |
| other significant developmental or | ||
| morphological phenotypes (yes) | ||
| Delayed speech and language development | 9% | |
| Brachydactyly | 6% | |
| Microtia | 6% | |
| Ptosis | 6% | |
| Seizures | 6% | |
| Single transverse palmar crease | 6% | |
| 12p13.32 | Intellectual disability | 60% |
| Microcephaly | 26% | |
| Muscular hypotonia | 13% | |
| Scoliosis | 12% | |
| Small for gestational age | 12% | |
| Finger clinodactyly | 11% | |
| Short stature | 11% | |
| Strabismus | 11% | |
| Epicanthus | 10% | |
| Micrognathia | 10% |
In total 65 cases of 7p21.3 deletions were analyses and 82 cases of 12p13.32 deletions.