Patient ID | Chromosome | ROH | Confirmation study | Type of UPD | Molecular Diagnosis | Clinical findings |
---|---|---|---|---|---|---|
WU1*,#,2# | 7 | Entire chr7 | Parental studies of rare variants | Isodisomy | Maternal UPD7 | Silver-Russell syndrome |
WU3 | 14 | 39 Mb | Parental studies of rare variants | Heterodisomy | Maternal UPD14 | Maternal UPD14 syndrome |
WU4 | 14 | 33 Mb | Parental studies of rare variants | Heterodisomy | Maternal UPD14 | Maternal UPD14 syndrome |
WU5* | 15 | 35 Mb | Methylation studies | Heterodisomy | Paternal UPD15 | Angelman syndrome |
WU6 | 15 | 32 Mb + 6 Mb | Parental studies of rare variants | Heterodisomy | Maternal UPD15 | Prader-Willi syndrome |
WU7 | 15 | Entire chr15 | Parental studies of rare variants | Isodisomy | Paternal UPD15 | Angelman syndrome |
WD8# | 15 | 17 Mb | Known before ES | Heterodisomy | Maternal UPD15 | Prader-Willi syndrome |
WU8,9# | 1–22 | Genome-wide | None | Isodisomy | Paternal | Mosaic genome-wide UPD |