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
|
- #UPD in patients WU1, 2, 9 and WD8 were known before ES testing
- *Isodisomy 7 in WU1 and ROH in WU5 were also detected by CMA at BG