{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T09:15:52Z","timestamp":1785143752799,"version":"3.55.0"},"reference-count":53,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP\u2010130364"],"award-info":[{"award-number":["MOP\u2010130364"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Miscarriages affect 15% of clinically recognized pregnancies. Recurrent miscarriage (RM) is defined by the occurrence of at least two consecutive pregnancy losses and affects 1%\u20105% of couples trying to conceive. In an attempt to categorize patients with RM and identify the mechanisms leading to their miscarriages, we first used flow cytometry to assess the ploidy of 93 products of conception (POCs) from 53 patients with RM (\u22653 miscarriages). We identified a single patient with four triploid POCs. We then used fluorescent in situ hybridization to confirm the triploidies and fluorescent microsatellite genotyping with distal and pericentromeric markers to determine their parental origin and the mechanisms leading to their formation. We found that all four triploidies were digynic and due to a failure in meiosis II (MII), suggesting a genetic predisposition. Upon further investigation into the family, we found a remarkable history of ovarian cysts and dysfunctions on the maternal side. Notably, one maternal cousin had a mature ovarian teratoma that we analyzed and found an identical mechanism at its origin, a failure in MII. The identification of two patients in the same family with two different manifestations\u2014digynic triploid conceptions and mature ovarian teratomas, both resulting from the failure of MII\u2014suggests an inherited genetic susceptibility toward an error in MII segregating in the family that may manifest in the form of a triploid digynic miscarriage or a mature ovarian teratoma. Our findings may facilitate the future identification of causative mutations for MII defects.<\/jats:p>","DOI":"10.1002\/gcc.22484","type":"journal-article","created":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T08:42:08Z","timestamp":1500626528000},"page":"832-840","source":"Crossref","is-referenced-by-count":8,"title":["Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect?"],"prefix":"10.1002","volume":"56","author":[{"given":"Yassemine","family":"Khawajkie","sequence":"first","affiliation":[{"name":"Division of Experimental Medicine McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Buckett","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc Minh Phuong","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology McGill University Montreal Canada"},{"name":"Department of Human Genetics McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawel","family":"Mechtouf","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asangla","family":"Ao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology McGill University Montreal Canada"},{"name":"Department of Human Genetics McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyne","family":"Arseneau","sequence":"additional","affiliation":[{"name":"Department of Pathology McGill University Montreal Canada"},{"name":"Gynecologic Oncology Unit, McGill University Health Centre Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4060-2159","authenticated-orcid":false,"given":"Rima","family":"Slim","sequence":"additional","affiliation":[{"name":"Division of Experimental Medicine McGill University Montreal Canada"},{"name":"Department of Obstetrics and Gynecology McGill University Montreal Canada"},{"name":"Department of Human Genetics McGill University Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2012.00034"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/GRF.0b013e31802f1c28"},{"key":"e_1_2_7_4_1","first-page":"76","article-title":"Recurrent pregnancy loss: Etiology, diagnosis, and therapy","volume":"2","author":"Ford HB","year":"2009","journal-title":"Rev Obstet Gynecol."},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)69204-0"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/S0002-9378(03)00700-2"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0064446"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/des102"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/8.5.463"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2092"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.07.001"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.002"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-014-0272-6"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/der035"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2010.08.004"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2011.10.013"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmr027"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gah049"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2013.10.001"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/cyto.990100302"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.pgp.0000215295.45738.ed"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/302951"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200007)20:7<561::AID-PD875>3.0.CO;2-1"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10099"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201076"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201274"},{"key":"e_1_2_7_27_1","first-page":"133","article-title":"A case report supporting the concept that some women have a predisposition for maternal meiosis errors resulting in digyny","volume":"36","author":"Check JH","year":"2009","journal-title":"Clin Exp Obstet Gynecol."},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gau112"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.2217\/WHE.15.27"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(00)01666-6"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.d6309"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974-1208.82358"},{"key":"e_1_2_7_33_1","first-page":"251","article-title":"A case of bilateral dermoid cysts, insulin resistance, and polycystic ovarian disease: Association of ovarian tumors with polycystic ovaries with review of the literature","volume":"50","author":"Futterweit W","year":"1983","journal-title":"Mt Sinai J Med."},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016348709083042"},{"key":"e_1_2_7_35_1","first-page":"635","article-title":"Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin","volume":"47","author":"Surti U","year":"1990","journal-title":"Am J Hum Genet."},{"key":"e_1_2_7_36_1","first-page":"278","article-title":"Familial occurrence of mature ovarian teratomas","volume":"66","author":"Simon A","year":"1985","journal-title":"Obstet Gynecol."},{"key":"e_1_2_7_37_1","first-page":"199","article-title":"Two twins with teratoma of the ovary. An unusual association: Case report","volume":"24","author":"Indinnimeo M","year":"2003","journal-title":"Eur J Gynaecol Oncol."},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmig.2010.06.006"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.3892\/mco.2016.1118"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1593832"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/0020-7292(83)90056-5"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(76)92084-5"},{"key":"e_1_2_7_43_1","first-page":"892","article-title":"Familial incidence of ovarian dermoid cysts","volume":"108","author":"Plattner G","year":"1973","journal-title":"Can Med Assoc J."},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1517\/03009734000000037"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1994.13.3.225"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005355"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2009-0966"},{"key":"e_1_2_7_48_1","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1242\/dev.101.2.383","article-title":"The postimplantation development of spontaneous digynic triploid embryos in LT\/Sv strain mice","volume":"101","author":"Kaufman MH","year":"1987","journal-title":"Development."},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-011-9317-7"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22339"},{"key":"e_1_2_7_51_1","first-page":"644","article-title":"Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene\u2010centromere mapping of chromosome I markers","volume":"47","author":"Deka R","year":"1990","journal-title":"Am J Hum Genet."},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.1.4"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1086\/302615"},{"key":"e_1_2_7_54_1","first-page":"22","article-title":"Mature cystic teratoma: A clinicopathologic evaluation of 517 cases and review of the literature","volume":"84","author":"Comerci JT","year":"1994","journal-title":"Obstet Gynecol."}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.22484","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22484","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T21:29:53Z","timestamp":1696022993000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":53,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/gcc.22484"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22484","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9]]}}}