Table 1.
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 |
aSame ROH in both prenatal specimens; mosaic deletion in CVS, arr 1p36.33p36.22(849466–9292997)x1[0.3]
bMosaic del/dup in post-delivery POC array analysis, arr 1p36.33p36.23(849466–8718884)x1[0.8], arr 1p36.23p36.22(8718885–12155862)x3[0.8]
cNon-mosaic deletion in POC, arr 1p36.33p36.13(849466–17275759)x1
dMosaic gain in adult blood CMA (chromosome analysis confirmed), arr 3p26.3p22.1(2693–43129322)x3[0.05]
eMosaic copy neutral ROH in CVS, arr 7q33q36.3(132913480–159119220)x2[0.5] hmz. Non-mosaic in AF