Hsu, Chin-ChiehChin-ChiehHsuLee, Chien-HongChien-HongLeeChang, Shuenn-DyhShuenn-DyhChangTSANG-MING KOUeng, Shir-HwaShir-HwaUengChen, Yu-HsiuYu-HsiuChenWang, Mei-ChiaMei-ChiaWangChang, Yao-LungYao-LungChang2023-06-202023-06-202022-01-272073-4425https://scholars.lib.ntu.edu.tw/handle/123456789/632895Placental 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.en45 X; array CGH; biparental/androgenetic mosaicism; isochromosome X; karyotype; microsatellite; placental mesenchymal dysplasia; short tandem repeats[SDGs]SDG310.3390/genes13020245352052902-s2.0-85124098003WOS:000975403700001https://api.elsevier.com/content/abstract/scopus_id/85124098003