Table 3.

Segmental UPD contiguous with triplications

Case	UPD interval	Terminal ROH (Mb)	Triplication interval	Triplication size (Mb)	Age/source	Indication
37	1pter → p36.22	11.62	1p36.22 → p36.21	1.32	4.8 years	None given
38	1pter → p36.13	19.35	1p36.13 → p36.12	3.56	7.6 years	None given
39	1pter → p36.33	1.49	1p36.33 → p36.32	2.09	1.2 years	Developmental delay
40	1q43 → qter	10.07	1q42.3 → q43	4.23	NB	Multiple congenital anomalies
41	2pter → p24.2	17.48	2p24.2 → p23.3	8.24	CVS	Cystic hygroma
42	3pter → p25.1	13.65	3p25.1 → p24.1	14.7	4.9 years	Developmental delay
43	4pter → p15.2	26.02	4p15.2 → p14	13.37	NB	None given
44	4q31.21—> qter	35.3	4q31.21—> q32.1	11.49	34.8 years	Unspecified intellectual disabilities
45	5q31.3 → qter	40.83	5q31.2 → q31.3	0.906	1.5 years	None given
46	8pter → p12	31.31a	8p12 → p11.21	11.03	POC	Cystic hygroma
47	8pter → p21.1	24.38	8p21.2 → p12	5.2	25 years	Brain deformity, developmental delay, hearing loss
48	8q24.3 → qter	0.19	8q24.13- > q24.3	23.31	AF	Thickened NT, suspected heart defect, cleft palate
49	9pter → p22.3	15.47	9p22.3 → p21.3	9.66	5.9 years	Developmental delay
50	17pter → p13.3	1.91	17p13.3 → p13.2	3.78	13 years	Developmental delay
51	17q25.3 → qter	2.23	17q25.3 → 25.3	3.07	2.6 years	Delayed milestones
52	21q21.1 → qter (70%, 30% del)	28.1	21q11.2 → q21.1 (3.4 copy)	5	POC	Advanced maternal age
53	22q13.31 → qter	3.57	22q13.2 → q13.31	5.23	1.1 years	Microcephaly

^aMosaic deletion/duplication-triplication:arr 8p23.3p23.1(158048–31307174)x1[0.2], 8p23.1(31307174-42334760)x4[0.7]