TABLE 1.
Comparison of male patients in order of copy number repeats of the segment containing GDI1
| Vandewalle F4 II.1 | Vandewalle F1IV.2 | Vandewalle F1 III.10a | Vandewalle F1 III.19 | Vandewalle F3II.2 | Patient 4 | Patient 7 | Patient 1 | Vandewalle F2 II.1 | Vandewalle F2 II.2a | |
|---|---|---|---|---|---|---|---|---|---|---|
| Copy # (GDI1) | 2 | 3 | 3 | 3 | 3 | 3 | 3 | 4 | 5 | 5 |
| Age | 2 years | 6 years | 37 years | Adult | 7 years | 18 years | 8 years | 17 months | 3.5 years | 19 months |
| Dev delay | Mild motor speech | Mild motor speech | Delayed— otherwise unspecified | Unreported | Mild speech | Mild motor | Mild speech | Moderate limited speech & motor | Severe two words no ambulation | Severe crawling only |
| ID | ND | IQ 50 | “Moderate” (Functional) | “Moderate” (Employed) | IQ 58 | “Mild” (Employed) | “Mild” | ND | Severe | Severe |
| Behavior | ND | No problems | Shy/quiet | Shy/friendly | ND | Shy/timid | Hyperactive aggressive | No issues | ND | ND |
| Epilepsy | - | - | - | - | - | - | - | + | + | - |
| OFC (Centile) | 48 cm (25th) | 51cm (50th) | 59 cm (>97th) | 56 cm (75th) | 49.5 cm (<3rd) | 56.5 cm (75th) | 51.5 cm (25th) | 46 cm (< 3rd) | 46 cm (<3rd) | 41cm ( < 3rd) |
| Brain imaging | Normal HUS | Enlarged fourth ventricle | ND | ND | Ventricular dilation | Hypoplastic pons | ND | Mild vermian hypoplasia | Dandy-Walker malformation | Dandy-Walker malformation |
| Normal Head CT | Large asymmetric cisterna magna | Small posterior fossa structures | Borderline low cerebral and cerebellar volume | Cerebellar hypoplasia | Agenesis of cerebellar vermis | |||||
| Peri-atrial white matter volume loss | Subependymal cystic lesionsb | Agenesis of the corpus callosum | Hypoplasia of the corpus calosum |
HUS, Head ultrasound; ID, Intellectual disability; ND, No data.
a
lt is not explicitly stated that the copy number variation was confirmed in this patient.
b
Patient 1 only had a prenatal MRI.