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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
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Genome Medicine

ISSN: 1756-994X

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