Table 3.

Detection results and ultrasonography findings of 3 cases with LOH

Cases	Maternal age	SNP result	Size	Ultrasound findings	genes involved in AR diseases	imprinting genes involved	Clinical significance	Pregnancy outcomes
15	29	arr[GRCh37]3q13.13q21.2(107,945,077–125,298,512)x2 hmz	17.3 Mb	Bilateral TE + patent ductus arteriosus	ATP6V1A (607,027)/HGD (607,474)/IQCB1 (609,237)	None	VOUS, increased risk of AR diseases	Live birth; bilateral TE, mental/physical retardation
16	33	arr[GRCh37]3p26.2p25.1(2,886,527–13,828,221)×2hmz, arr[GRCh37]4p16.3p15.33(3,473,602–14,373,371)×2hmz, 5p13.3p11(31,554,333–46,313,469)×2hmz	10.9 Mb, 10.9 Mb, 14.8 Mb	Unilateral TE + pulmonary valve thickens and the echo widens; mild tricuspid and pulmonary valve regurgitation	TRNT1(612,907)/CRBN(609,262), DOK7(610,285)/LRPAP1(104,225), TARS1(187,790)/SLC45A2(606,202)	None	VOUS, increased risk of AR diseases	Live birth; right-sided TE
17	29	arr[GRCh37]6p22.3p21.31(24,654,265–35,934,695)x2 hmz	11.2 Mb	Bilateral TE + abnormal wrist joint; separation of bilateral renal pelvis	PSMB8 (177,046), MSH5 (603,382), VARS (192,150)	Unclear	VOUS, increased risk of AR diseases	TOP