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 |