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Table 2 Mosaic segmental UPD

From: Clinical significance and mechanisms associated with segmental UPD

Case segUPD interval TERMINAL ROH (Mb) ~ % Mosaic HMZ Age/Source Indication
15 1pter → p22.1 93.9 50 3 years Developmental delay, seizures, hearing loss, decreased motor function
16 1pter → p36.32 2.8 34 1.9 mos Seizures in infant, suspect epilepsy
17 1q12 → qter 99.4 50 1.5 years Macrocephaly, delays in development and speech, short stature
18 1q42.13 → qter 20.2 15 CVS AMA, family history of chromosome abnormality
19 3pter → p24.3 23.46 30 AF AV canal defect, 2 vessel cord, co-twin with anencephaly, oligohdramnios
20 5pter → p13.2 36.85 50 CVS Prenatal anxiety
21 9q13 → qter 74.2 40 4 years Autism
22 9q13 → qter 74.2 20 POC Loss at 22 weeks
23 11q13.4 → qter 62.34 25 AF Clinodactyly, bright bowel
24 12q13.13 → qter 80.87 25 (blood); 15 (buccal); 0 (villi) NB Dysmorphic features, Mowat-Wilson syndrome (a pathogenic mutation in ZEB2 was correlated with the phenotype)
25 12q13.11 → 12q13.13 84.36 70
85
1.5 years Peg teeth, dry skin, developmental delay, speech and motor delay
12q13.13 → qter
26 13q12.3 → qter 85.59 20 5.3 years Atrial septal defect
27 13q12.11 → qter 94.9 35 3.9 years Essential (primary) hypertension, obesity, abnormal weight gain
28 14q12 → qter 74.68 25 8.9 years Developmental delay
29 14q22.1 → qter 55.56 27 3.4 years Autism, multiple congenital anomalies
30 15q13.3 → q15.2   15 12 years Short stature, developmental delay; symptoms consistent with 15q25.2 microdeletion syndrome
15q15.2 → q22.31 71.24 46
15q22.31 → qter   75a
31 15q22.31 → qter 37.8 30 CVS NT 3.9 mm
32 16q11.2 → qter 43.7 35 NB Microcephaly, fetal growth restriction
33 18q11.1 → qter 59.5 25 POC Positive MSS, increased risk of 4p deletion, features consistent with Wolf–Hirschhorn syndrome
34 19q13.2 → q13.2 2.75 25 35 years Progressive progeria-like symptoms, short stature, psychoses
19q13.2 → qter 17.36 37
35 21q21.1 → qter 24.38 40b 29 years Developmental disorder of scholastic skills
36 22q11.23 → qter 26.6 50 POC Abnormal cfDNA screen with fetal demise
  1. aMosaic deletion, arr 15q25.1q25.3 (78989949–86981470)x1[0.25]
  2. bMosaic duplication, arr 12p13.33p11.22(173786–30511741)x3[0.6], and mosaic deletion, arr 21q22.2q22.3(41025556–48097372)x1[0.6]