Table 2 Further clinical studies of affected individuals
Patient | MRI: Molar tooth sign | MRI: Ventriculomegaly | MRI: Intra-cerebellar cyst | MRI: Cleft high-arched soft palate | Renal ultrasound | Karyotype | Chromosomal microarray (CMA) | Creatinine (mg/dL) | Polydipsia/Polyuria | Iron resistant anemia | Ophthalmologic assessment |
---|---|---|---|---|---|---|---|---|---|---|---|
F1-V15 | + | + | + | + | Unremarkable | Not done | arr(1-22)x2,(XY)x1 | 0.25 (age 10) | - | - | Normal eye movement |
F2-II-1 | + | + | + | - | Unremarkable | 46,XY | arr(1-22)x2,(XY)x1 | 0.36 (age 1 y) | - | - | N/A |
F1-V3 | + | + | + | + | Unremarkable | 46,XY | arr(1-22)x2,(XY)x1 | 0.45 (age 15 y) | - | - | N/A |
F1-V11 | + | + | + | + | Not done | Not done | arr(1-22)x2,(X)x2 | 0.28 (age 4 y) | - | - | Nystagmus, strabismus |
F1-V8 | + | + | + | + | Not done | Not done | arr(1-22)x2,(XY)x1 | 0.2 (age 2 y) | - | - | Normal eye movement |