Table 5.
Brain imaging abnormalities in duplication 17p13.3 patients
| Pt# | Cerebral hemispheres | Corpus callosum | Lateral ventricles | Brainstem | Cerebellum | Posterior fossa, skull |
|---|---|---|---|---|---|---|
| Group 1 | ||||||
| 1 | N | N | N | N | N | N |
| 2 | N | Short | N | N | N | ±BOM |
| 3a1 | N | N | N | N | CBVH | MCM-BOM |
| 4a1 | N | N | N | N | N | N |
| 6 | N | Short | N | N | ±CBVH | ±BOM |
| 7a1 | Atrophy | Thin | VMEG | N | Atrophy | N |
| 7a2 | N | N | N | N | N | N |
| 8a1 | N | N | N | N | N | ±BOM |
| 8a2 | N | N | N | N | N | ±BOM |
| Group 2 | ||||||
| 9 | N | N | N | N | CBVH | BOM |
| 10 | N | Short | Fetal | N | CBVH | N |
| 13a1 | N | Thin | VMEG | N | DWM/CBVH | MCM-BOM |
| 14 | N | N | N | N | CBVH | MCM-BOM |
| 17a1 | N | Thin | VMEG | N | ±CBVH | CBTE, ±BOM |
| Group 3 | ||||||
| 18 | Atrophy | N | VMEG | N | N | N |
| 19 | N | N | N | N | N | N |
| 20a1 | N | N | VMEG | N | N | N |
| 21a2 | N | N | N | N | N | N |
Abbreviations: ±BOM, normal except for subtle basi-occipital changes such as downslanted foramen magnum or flat inferior occiput; CBTE, cerebellar tonsilar ectopia with Chiari 1 malformation; CBVH, cerebellar vermis hypoplasia; ±CBVH, probable or mild CBVH; DWM, Dandy-Walker malformation; MCM-BOM, mega-cisterna magna with associated basi-occipital skull anomalies; Pt#, patient number; Short, short and thin corpus callosum consistent with mild partial agenesis; VMEG, ventriculomegaly. Fetal, fetal VMEG described as normal on postnatal imaging.