Table 2.
Characteristic features of linear 17q deletionsa
| Breakpoints | 17:79938892–81048189 | 17:80544886–81109933 | 17:80695764–81029941 | 17:80306702–81108062 | 17:80561130–81029941 | 17:79995871–81058252 |
| DECIPHER | 2494 | 263357 | 265082 | 272049 | 278987 | 287935 |
| Facial dysmorphisms | bifid tongue, midface retrusion, narrow nasal bridge, oligodontia, strabismus, thick nasal alae, upslanted palpebral fissures | abnormal facial shape | − | − | − | − |
| Microcephaly | − | − | − | − | − | − |
| Neurological conditions | ID | global developmental delay | congenital nystagmus | ID | ID, dystonia | ID |
| Growth | − | − | − | − | − | − |
| Orthopedics | brachydactyly, scoliosis, tapered fingers | − | − | − | − | − |
| Heart | atrial and ventricular septum defect | − | − | − | − | − |
| Eye | − | − | cataract, coloboma, iris coloboma, microcornea, microphthalmos | abnormality of vision | − | − |
| Skin | − | − | − | − | − | − |
| Epilepsy | − | − | − | − | − | − |
| Drug resistance | − | − | − | − | − | − |
| Brain abnormality | − | − | − | − | − | − |
| Other | − | − | secondary amenorrhea | − | hypothyroidism | |
ID, intellectual disability.
a
For DECIPHER Nos. 269980 (80015882–81029941), 274122 (80583427–81029912), 289742 (80578678–81058252), 317239 (80554346–81047565), 304247 (80583427–81044524), 286209 (80583426–81195210), and 287748 (80583426–81195210) no phenotypes are reported.