{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Soejima H"],"funding":["Ministry of Health, Labor, and Welfare Program","Japan Agency for Medical Research and Development","Japan Society for the Promotion of Science"],"pagination":["5563"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9688415"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(22)"],"pubmed_abstract":["Placental mesenchymal dysplasia (PMD) is characterized by placentomegaly, aneurysmally dilated chorionic plate vessels, thrombosis of the dilated vessels, and large grapelike vesicles, and is often mistaken for partial or complete hydatidiform mole with a coexisting normal fetus. Androgenetic/biparental mosaicism (ABM) has been found in many PMD cases. Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with complex and diverse phenotypes and an increased risk of developing embryonal tumors. There are five major causative alterations: loss of methylation of imprinting control region 2 (<i>KCNQ1OT1</i>:TSS-DMR) (ICR2-LOM), gain of methylation at ICR1 (<i>H19</i>/<i>IGF2</i>:IG-DMR) (ICR1-GOM), paternal uniparental disomy of 11 (pUPD11), loss-of-function variants of the <i>CDKN1C</i>"],"journal":["Cancers"],"pubmed_title":["Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome."],"pmcid":["PMC9688415"],"funding_grant_id":["JP21K19451, JP20H03643, JP20K08183","P20ek0109486, JP20ek0109489","JP20FC1046"],"pubmed_authors":["Soejima H","Hara S","Higashimoto K","Ohba T"],"additional_accession":[]},"is_claimable":false,"name":"Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome.","description":"Placental mesenchymal dysplasia (PMD) is characterized by placentomegaly, aneurysmally dilated chorionic plate vessels, thrombosis of the dilated vessels, and large grapelike vesicles, and is often mistaken for partial or complete hydatidiform mole with a coexisting normal fetus. Androgenetic/biparental mosaicism (ABM) has been found in many PMD cases. Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with complex and diverse phenotypes and an increased risk of developing embryonal tumors. There are five major causative alterations: loss of methylation of imprinting control region 2 (<i>KCNQ1OT1</i>:TSS-DMR) (ICR2-LOM), gain of methylation at ICR1 (<i>H19</i>/<i>IGF2</i>:IG-DMR) (ICR1-GOM), paternal uniparental disomy of 11 (pUPD11), loss-of-function variants of the <i>CDKN1C</i>","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-05T00:44:26.542Z","creation":"2025-04-05T00:44:26.542Z"},"accession":"S-EPMC9688415","cross_references":{"pubmed":["36428656"],"doi":["10.3390/cancers14225563"]}}