Table 2.

Mosaic 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

^aMosaic deletion, arr 15q25.1q25.3 (78989949–86981470)x1[0.25]

^bMosaic duplication, arr 12p13.33p11.22(173786–30511741)x3[0.6], and mosaic deletion, arr 21q22.2q22.3(41025556–48097372)x1[0.6]