{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:13Z","timestamp":1761718153652},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,9,2]],"date-time":"2010-09-02T00:00:00Z","timestamp":1283385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Juvenile polyposis syndrome (JPS) is a hereditary condition characterized by development of gastrointestinal polyps, and caused by mutations in <jats:italic>SMAD4<\/jats:italic> or <jats:italic>BMPR1A<\/jats:italic> genes. Juvenile polyps can also be found in a related group of syndromes with multisystemic involvement including Cowden disease, Lhermitte\u2013Duclos disease, Bannayan\u2013Riley\u2013Ruvalcaba syndrome, and Proteus\u2010like syndrome, all grouped as <jats:italic>PTEN<\/jats:italic> hamartoma tumor syndromes (PHTS). In all these conditions including JPS, polyps manifest in older childhood or early adulthood. Infantile juvenile polyposis (JPI) is a rare entity, presenting in the first year of life with severe gastrointestinal symptoms. Many of these patients have associated macrocephaly, hypotonia, and congenital anomalies. It was recently recognized that patients with infantile polyposis have a 10q23 microdeletion, involving both <jats:italic>BMPR1A<\/jats:italic> and <jats:italic>PTEN<\/jats:italic> genes. There is a major risk for gastrointestinal malignancies in these patients, but the risk for development of other tumors is not known. We describe a patient with a history of infantile polyposis, macrocephaly, developmental delay, hypotonia, and a 10q23 microdeletion. At age 14 she presented with bilateral mucinous cystadenoma of the ovary. This type of tumor was not previously reported in association with JPS, 10q23 microdeletion syndrome, or infantile polyposis. We believe that ovarian cystadenomas may be another neoplastic complication of infantile polyposis, and that our report widens the spectrum of the 10q23 microdeletion phenotype. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33637","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T19:54:15Z","timestamp":1283543655000},"page":"2623-2627","source":"Crossref","is-referenced-by-count":10,"title":["Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype"],"prefix":"10.1002","volume":"152A","author":[{"given":"Nikola","family":"Babovic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia S.","family":"Simmons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Moir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik C.","family":"Thorland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Scheithauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troy J.","family":"Gliem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dusica","family":"Babovic\u2010Vuksanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,9,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<489::AID-AJMG24>3.0.CO;2-B"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/513607"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201823"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/504301"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1430"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1461"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01026.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9610(75)90298-6"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/507151"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-005-1624-1"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.294.19.2465"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199802)21:2<113::AID-GCC6>3.0.CO;2-3"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2007.142927"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.2350\/10-01-0791-CR.1"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/340026"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg069"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.1997.v113.pm9352843"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33637","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33637","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T05:56:22Z","timestamp":1697003782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,2]]},"references-count":18,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1002\/ajmg.a.33637"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33637","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,2]]}}}