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Table 5 Large ROH detected by arrays were shown to be associated with UPD disorders in 10 patients

From: Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

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

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