{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:47:10Z","timestamp":1760150830337,"version":"build-2065373602"},"reference-count":12,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2019s blood and amniotic fluid were revealed. Delicate mosaic analyses were performed, and possible pathogenesis and embryogenesis of this case were drawn up.<\/jats:p>","DOI":"10.3390\/genes13020245","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T21:59:55Z","timestamp":1643320795000},"page":"245","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq\/45, X Mosaicism"],"prefix":"10.3390","volume":"13","author":[{"given":"Chin-Chieh","family":"Hsu","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chien-Hong","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuenn-Dyh","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsang-Ming","family":"Ko","sequence":"additional","affiliation":[{"name":"Genephile Bioscience Laboratory, Ko\u2019s Obstetrics and Gynecology, Taipei 10050, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shir-Hwa","family":"Ueng","sequence":"additional","affiliation":[{"name":"Department of Pathology, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Hsiu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei-Chia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2025-5492","authenticated-orcid":false,"given":"Yao-Lung","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1097\/PGP.0000000000000719","article-title":"Androgenetic\/Biparental Mosaic\/Chimeric Conceptions with a Molar Component: A Diagnostic and Clinical Challenge","volume":"40","author":"Hodgson","year":"2021","journal-title":"Int. J. Gynecol. Pathol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/uog.12359","article-title":"Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome","volume":"41","author":"Nayeri","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_3","first-page":"187","article-title":"Androgenetic\/biparental mosaicism causes placental mesenchymal dysplasia","volume":"43","author":"McFadden","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/clinchem\/43.2.333","article-title":"Medians for second-trimester maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol; differences between races or ethnic groups","volume":"43","author":"Benn","year":"1997","journal-title":"Clin. Chem."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s00414-008-0310-y","article-title":"Thirteen X-chromosomal short tandem repeat loci multiplex data from Taiwanese","volume":"123","author":"Hwa","year":"2009","journal-title":"Int. J. Leg. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1080\/15513810802545350","article-title":"Immunohistochemical expression of p57 in placental vascular proliferative disorders of preterm and term placentas","volume":"28","author":"Allias","year":"2009","journal-title":"Fetal Pediatr. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1111\/j.1600-0412.2012.01397.x","article-title":"Placental mesenchymal dysplasia and an estimation of the population incidence","volume":"91","author":"Zeng","year":"2012","journal-title":"Acta Obstet. Gynecol. Scand."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1741-4520.2002.tb00897.x","article-title":"Suspected involvement of the X chromosome in placental mesenchymal dysplasia","volume":"42","author":"Arizawa","year":"2002","journal-title":"Congenit. Anom. (Kyoto)"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1055\/s-0039-3399496","article-title":"Turner Syndrome with Isochromosome Xq","volume":"9","author":"Balkan","year":"2020","journal-title":"J. Pediatr. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/0090-8258(82)90100-7","article-title":"45,X complete hydatidiform mole","volume":"14","author":"Berkowitz","year":"1982","journal-title":"Gynecol. Oncol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1101\/gr.200527.115","article-title":"Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy","volume":"26","author":"Destouni","year":"2016","journal-title":"Genome Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/BF00284476","article-title":"Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences","volume":"77","author":"Callen","year":"1987","journal-title":"Hum. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/245\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:09:30Z","timestamp":1760134170000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/2\/245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,27]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["genes13020245"],"URL":"https:\/\/doi.org\/10.3390\/genes13020245","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2022,1,27]]}}}