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 |