Segmental uniparental disomy associated with a cytogenetically normal karyotype
| Karyotype | UPD (segment) | Maternal UPD | Paternal UPD | ? | Reference | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H | I | Σ | H | I | Σ | ||||||||
| 46,XX | 2p16 | 1 | 1 | 7 | |||||||||
| 46,X? | (4p) | 1 × I | 8 | ||||||||||
| 46,XY | (4)(q21q35) | 1 | 1 | 9 | |||||||||
| 46,XX | (6)(p21.3) | 1 | 1 | 10 | |||||||||
| 46,XY | (6)(q24qter) | 1 | 1 | 11 | |||||||||
| 46,XX | (7)(q32qter) | 1 | 1 | 12 | |||||||||
| 46,X? | mos(11)(p15pter) | 1-150 | 5 | ||||||||||
| 46,XX | (14)(q23q24.2) | 1 | 1 | 13 | |||||||||
| 46,X? | (14)(q12q24.3) | 1 | 1 | 14 | |||||||||
| 46,XX | (X)(q27qter) | 1 | 1 | 15 | |||||||||
| Σ | 2 | 4 | 6 | 2 | 2 | 1 | |||||||
↵1-150 Approximately 20% of cases with Beckwith-Wiedemann syndrome.
H = heterodisomy, I = isodisomy, UPD = uniparental disomy.