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Table 3 Segmental UPD contiguous with triplications

From: Clinical significance and mechanisms associated with segmental UPD

Case UPD interval Terminal ROH (Mb) Triplication interval Triplication size (Mb) Age/source Indication
37 1pter → p36.22 11.62 1p36.22 → p36.21 1.32 4.8 years None given
38 1pter → p36.13 19.35 1p36.13 → p36.12 3.56 7.6 years None given
39 1pter → p36.33 1.49 1p36.33 → p36.32 2.09 1.2 years Developmental delay
40 1q43 → qter 10.07 1q42.3 → q43 4.23 NB Multiple congenital anomalies
41 2pter → p24.2 17.48 2p24.2 → p23.3 8.24 CVS Cystic hygroma
42 3pter → p25.1 13.65 3p25.1 → p24.1 14.7 4.9 years Developmental delay
43 4pter → p15.2 26.02 4p15.2 → p14 13.37 NB None given
44 4q31.21—> qter 35.3 4q31.21—> q32.1 11.49 34.8 years Unspecified intellectual disabilities
45 5q31.3 → qter 40.83 5q31.2 → q31.3 0.906 1.5 years None given
46 8pter → p12 31.31a 8p12 → p11.21 11.03 POC Cystic hygroma
47 8pter → p21.1 24.38 8p21.2 → p12 5.2 25 years Brain deformity, developmental delay, hearing loss
48 8q24.3 → qter 0.19 8q24.13- > q24.3 23.31 AF Thickened NT, suspected heart defect, cleft palate
49 9pter → p22.3 15.47 9p22.3 → p21.3 9.66 5.9 years Developmental delay
50 17pter → p13.3 1.91 17p13.3 → p13.2 3.78 13 years Developmental delay
51 17q25.3 → qter 2.23 17q25.3 → 25.3 3.07 2.6 years Delayed milestones
52 21q21.1 → qter (70%, 30% del) 28.1 21q11.2 → q21.1 (3.4 copy) 5 POC Advanced maternal age
53 22q13.31 → qter 3.57 22q13.2 → q13.31 5.23 1.1 years Microcephaly
  1. aMosaic deletion/duplication-triplication:arr 8p23.3p23.1(158048–31307174)x1[0.2], 8p23.1(31307174-42334760)x4[0.7]