Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan.
Department of Laboratory Medicine, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan.
Genes (Basel). 2022 Jan 27;13(2):245. doi: 10.3390/genes13020245.
Placental mesenchymal dysplasia is an uncommon vascular anomaly of the placenta with characteristics of placentomegaly and multicystic appearance and with or without association with fetal chromosomal anomaly. We present a unique placental mesenchymal dysplasia patient with amniotic fluid karyotyping as 46, X, iso(X) (q10). Detailed molecular testing of the amniotic fluid, fetal cord blood, non-dysplastic placenta and dysplastic placenta was conducted after termination of pregnancy, from which we proved biparental/androgenetic (46, X, i(X) (q10)/45, X) mosaicism in different gestational tissues. A high portion of androgenetic cells in dysplastic placenta (74.2%) and near 100% of biparental cells in the fetus's blood and amniotic fluid were revealed. Delicate mosaic analyses were performed, and possible pathogenesis and embryogenesis of this case were drawn up.
胎盘间充质发育不良是一种罕见的胎盘血管异常，具有胎盘肿大和多囊性外观的特征，并伴有或不伴有胎儿染色体异常。我们报告了一例独特的胎盘间充质发育不良患者，羊水染色体核型为 46，X，iso(X) (q10)。妊娠终止后，我们对羊水、胎儿脐带血、非发育不良胎盘和发育不良胎盘进行了详细的分子检测，从中我们证明了不同妊娠组织中的双亲/雄激素（46，X，i(X) (q10)/45，X）镶嵌现象。在发育不良的胎盘（74.2%）中发现了大量的雄激素细胞，而胎儿血液和羊水的近 100%的细胞均为双亲细胞。我们进行了细致的镶嵌分析，并提出了这种情况的可能发病机制和胚胎发生。
