{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:04:28Z","timestamp":1790795068745,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,2,11]],"date-time":"2004-02-11T00:00:00Z","timestamp":1076457600000},"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":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a prenatal case of a chromosome 21\u2010derived minute supernumerary marker, found as a mosaic along with a trisomy 21 cell line at amniocentesis. Follow\u2010up analysis of other fetal tissues confirmed the mosaicism and also disclosed a normal cell line. It is likely that the marker reflects a mutation event that resulted in trisomy rescue early in embryonic development. Had the trisomy 21 cell line not been found at amniocentesis, a low risk of an abnormal phenotype (approximately 5%) would have been assigned. We suggest that the risk associated with minute non\u2010euchromatic marker chromosomes should be revised to account for the possibility of mosaicism with potentially aneuploid populations and\/or uniparental disomy (UPD). The finding of any marker chromosome should prompt a thorough investigation for aneuploid cell lines. In the case of small markers with no euchromatin, the given risk of adverse phenotypic effects is not likely to be associated with the marker per se but with the possible presence of a cryptic aneuploid cell line from which the marker may have arisen. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20682","type":"journal-article","created":{"date-parts":[[2004,4,20]],"date-time":"2004-04-20T18:02:34Z","timestamp":1082484154000},"page":"191-193","source":"Crossref","is-referenced-by-count":7,"title":["A chromosome 21\u2010derived minute marker in a mosaic trisomy 21 background: Implications for risk assessments in marker chromosome cases"],"prefix":"10.1002","volume":"127A","author":[{"given":"Eunice\u2010Georgia G.","family":"Stefanou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Crocker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,2,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1092","article-title":"Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis","volume":"36","author":"Benn PA","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141103"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209395"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<355::AID-AJMG4>3.0.CO;2-P"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.0.CO;2-N"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199905)19:5<436::AID-PD565>3.0.CO;2-U"},{"issue":"1","key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000472270","article-title":"A search for uniparental disomy in carriers of supernumerary marker chromosomes","volume":"3","author":"James RS","year":"1995","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_5_9_1","first-page":"326","article-title":"47,XX,UPD(7)mat,+r(7)pat\/46,XX,UPD(7)mat mosaicism in a girl with Silver\u2010Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13\u2010q11 region","volume":"36","author":"Miyoshi O","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.92"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.9.756"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.12.885"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040706"},{"key":"e_1_2_5_14_1","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified as prenatal diagnosis: Clinical significance and distribution of breakpoints","volume":"49","author":"Warburton D","year":"1991","journal-title":"Am J Hum Genet"}],"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.20682","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T03:48:49Z","timestamp":1697600929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,11]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1002\/ajmg.a.20682"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20682","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,11]]}}}