Table 1 Segmental UPD
From: Clinical significance and mechanisms associated with segmental UPD
Case | UPD interval | TERMINAL ROH (Mb) | Origin | Age/source | Indication |
|---|---|---|---|---|---|
1 | 1pter → p36.22 | 9.39 | Mat | 9.3 years | Multiple congenital anomalies: der(1)t(1;17) in amnio analysis |
2 | 1pter → p36.22 | 9.33a | Mat | CVS and AF | NIPT: Terminal del(1)(p36), 60% deletion in CVS, copy neutral in AF, normal fetal ultrasound |
3 | 1pter → p36.12 | 21.58 | NA | AF | NIPT: Terminal del(1)(p36), terminal dup(1)(q42); cardiac defect, hypotonic, dysmorphic at birth |
4 | 1pter → p36.13 | 16.32b | Mat | AF and POC | NIPT: Terminal del(1)(p36.23) and dup(1)(p36.23p36.22), normal pediatric follow-up |
5 | 1pter → p36.13 | 17.28c | NA | Newborn and Placenta | NIPT: Terminal del(1)(p36.13) and mos dup(18)(q22q23), VSD, esophageal atresia |
6 | 3pter → p22.1 | 43.13d | Mat | 24 years blood and buccal | Developmental delay, hearing loss, obesity, mosaic unbalanced der(4)t(3;4)(p22;q35) detected in early childhood |
7 | 5pter → p15.1 | 16.44 | Mat | 51 years | Cardiomyopathy, hypertension, mental retardation |
8 | 7q33 → qter | 26.21e | Mat | CVS and AF | Ventricular septal defect, small right ventricle |
9 | 10q26.13 → qter | 11.12 | Mat | Newborn | Clinically normal; CVS with terminal G-band del(10)(q26) |
10 | 11q13.1 → qter | 70.88 | Mat | 12 years | Encephalopathy |
11 | 14q24.3 → qter | 32.21 | Pat | AF | Scalp and leg edema, short femurs/thorax (UPD14pat related) |
12 | 15q15.3 → qter | 58.54 | Pat | 42 years | Recurrent pregnancy loss |
13 | Xq25 → qter | 29.32 | Mat | Newborn | Fragile X full mutation x2, no paternal repeat |
14 | Xq13.1 → qter | 85.05 | Pat | 2 years | Congenital anomalies of face and neck |