The major clinical traits and cytogenetic characteristics of marker chromosomes
| Case No | Major clinical signs | Chromosomal origin | Numbers per cell | Parental origin | Frequency (%) | Size and morphology |
| 1 | Baker's cysts, facial dysmorphic features | 5 | 1 | Unknown | 57 | ∼21q, ring |
| 2 | Heart defect, developmental delay, dysmorphic features | 6 | 2 | De novo | 68 | Minute |
| 3 | Craniofacial dysmorphic features | 19 | 1 | De novo | 36 | ∼21q, ring |
| 4 | Urogenital abnormalities, retinal degeneration | 20 | 1 | Unknown | 100 | <21q |