| Summary of clinical features of patients with 6q22.1-q22.31 deletions | ||||
|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
| Age, sex | 5 years., male | 4 years., male | 1 month, female | 3 months, female |
| Developmental delay | + | + | + | − |
| Seizures | Only epileptiform activity on EEG | + | − | − |
| Craniosynostosis | − | − | + | + |
| Brain malformation | − | + | − | + |
| Dysmorphic facial features | + | + | + | + |
| Size, Mb | 9,8 | 7,9 | 13,9 | 11,9 |
| Molecular karyotype | arr[hg19] 6q22.1q22.31(114650304_124411267)x1 | arr[hg19] 6q22.1q22.31(117939083_125843984)x1 | arr[hg19] 6q21q22.31(109428325_123335803)x1 | arr[hg19] 6q21q22.31(113684116_125569047)x1 |