Skip to main content

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
  1. aSame ROH in both prenatal specimens; mosaic deletion in CVS, arr 1p36.33p36.22(849466–9292997)x1[0.3]
  2. 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]
  3. cNon-mosaic deletion in POC, arr 1p36.33p36.13(849466–17275759)x1
  4. dMosaic gain in adult blood CMA (chromosome analysis confirmed), arr 3p26.3p22.1(2693–43129322)x3[0.05]
  5. eMosaic copy neutral ROH in CVS, arr 7q33q36.3(132913480–159119220)x2[0.5] hmz. Non-mosaic in AF