{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T06:16:33Z","timestamp":1781072193286,"version":"3.54.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006458","name":"Children's Hospital of Philadelphia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD009003\u201001"],"award-info":[{"award-number":["HD009003\u201001"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and\/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co\u2010occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in <jats:italic>PIK3CA<\/jats:italic>\u2014a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co\u2010occur in individuals with Turner syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63385","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T05:00:35Z","timestamp":1694667635000},"page":"64-69","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of <scp><i>PIK3CA<\/i><\/scp>"],"prefix":"10.1002","volume":"194","author":[{"given":"Bede N.","family":"Nriagu","sequence":"first","affiliation":[{"name":"Center for Applied Genomics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia S.","family":"Williams","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niambi","family":"Brewer","sequence":"additional","affiliation":[{"name":"Genetic Diagnostic Laboratory University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea F.","family":"Surrey","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhay S.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Britt","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Treat","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Section of Dermatology, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"O'Connor","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arupa","family":"Ganguly","sequence":"additional","affiliation":[{"name":"Genetic Diagnostic Laboratory University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Low","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Plastic and Reconstructive Surgery Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Queenan","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodore G.","family":"Drivas","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise M.","family":"Adams","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Oncology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen M.","family":"Snyder","sequence":"additional","affiliation":[{"name":"Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Oncology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-8123","authenticated-orcid":false,"given":"Sarah E.","family":"Sheppard","sequence":"additional","affiliation":[{"name":"Unit on Vascular Malformations, Division of Intramural Research <i>Eunice Kennedy Shriver<\/i> National Institute of Child Health and Human Development  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-3257"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1443-1661.2012.01373.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01330.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1374"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01898-y"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81131-2"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/2022.03.20.485034"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abg0809"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12885"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0430"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40470"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000490425"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-023-02364-x"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.12.069"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198203000-00002"},{"key":"e_1_2_9_17_1","unstructured":"NCBI. (2020).Somatic overgrowth and vascular malformations gene panel."},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80786-0"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.121.318145"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-88-470-0569-3_14"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0217-9"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-3673"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(88)80079-0"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.5114\/pedm.2021.107722"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.129884"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63385","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T07:33:31Z","timestamp":1706513611000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63385"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,13]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63385"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63385","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,13]]},"assertion":[{"value":"2023-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}