{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T02:11:35Z","timestamp":1784859095232,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,11,11]],"date-time":"2002-11-11T00:00:00Z","timestamp":1036972800000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:p>Diploid\/triploid mosaicism is a dysmorphology syndrome consisting of mental retardation, truncal obesity, body and\/or facial asymmetry, growth retardation, hypotonia, a small phallus, malformed low\u2010set ears and micrognathia. In 75% of the cases, the blood karyotype is normal and the diagnosis can only be established after analysis of cultured fibroblasts. This chromosome abnormality may therefore be underdiagnosed. This paper focuses on the identification of mentally retarded and dysmorphic patients with diploid\/triploid mosaicism. Detailed clinical description of well\u2010defined patients may help in deciding if a skin biopsy for karyotyping of fibroblasts should be taken. Three new cases are presented, in which DNA marker analysis showed that the extra set of chromosomes in each case was derived from the mother. We present a review of 25 cases described in the literature and we discuss the inclusion of a second polar body into an early diploid embryo as the most likely mechanism.<\/jats:p>","DOI":"10.1034\/j.1399-0004.2002.620504.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T11:30:32Z","timestamp":1047382232000},"page":"376-382","source":"Crossref","is-referenced-by-count":47,"title":["Diploid\/triploid mosaicism in dysmorphic patients"],"prefix":"10.1111","volume":"62","author":[{"given":"I","family":"Van De Laar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Rabelink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Hochstenbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Tuerlings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Hoogeboom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Giltay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,11,11]]},"reference":[{"key":"e_1_2_5_2_2","unstructured":"London dysmorphology database Version 2.20.Oxford:Oxford University Press."},{"key":"e_1_2_5_3_2","first-page":"229","article-title":"Diploid\u2010triploid mosaicism: delineation of the syndrome","volume":"26","author":"Tharapel AT","year":"1983","journal-title":"Ann Genet"},{"key":"e_1_2_5_4_2","first-page":"251","volume-title":"Dysmorphology.","author":"Blackburn WR","year":"1982"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(60)90737-6"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520402"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00296299"},{"key":"e_1_2_5_8_2","first-page":"232","article-title":"Triploid\u2010diploid mosaicism in a deeply mentally retarded adult","volume":"23","author":"Fryns JP","year":"1980","journal-title":"Ann Genet"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240104"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03044.x"},{"key":"e_1_2_5_11_2","first-page":"206","article-title":"Fehlbildungs\u2010retardierungssyndrom infolge inkompletter triploidie","volume":"136","author":"Meinecke P","year":"1988","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.12.809"},{"key":"e_1_2_5_13_2","first-page":"76","article-title":"Clinical features of diploid\/polyploid mixoploidy in older individuals","volume":"25","author":"Edwards MJ","year":"1989","journal-title":"Pediatr Res"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01953982"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.7.597"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.966"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.164"},{"key":"e_1_2_5_18_2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1542\/peds.68.1.23","article-title":"Diploid\u2010triploid mixoploidy: clinical and cytogenetic aspects","volume":"68","author":"Graham JM","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(64)91395-9"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350105"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380407"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/302951"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200572"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580306.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1399-0004.2002.620504.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1399-0004.2002.620504.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T23:05:50Z","timestamp":1697497550000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1399-0004.2002.620504.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1034\/j.1399-0004.2002.620504.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1399-0004.2002.620504.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}