{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T13:26:59Z","timestamp":1775741219300,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines. The percentage of mosaicism in different tissues can impact the presence of clinical findings and hinder cytogenetic diagnosis. We report a case of mosaicism for trisomy 21 diagnosed after multi\u2010tissue cytogenetic analysis of peripheral blood and buccal mucosa, associated with significant intellectual disability, dysmorphic facial features, congenital heart defects, macropenis, and imperforate anus.<\/jats:p>","DOI":"10.1002\/ccr3.5604","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T12:34:42Z","timestamp":1649421282000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Multi\u2010tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report"],"prefix":"10.1002","volume":"10","author":[{"given":"Wilberg A.","family":"Moncada Arita","sequence":"first","affiliation":[{"name":"GIMUNICAH Faculty of Medicine Universidad Cat\u00f3lica de Honduras San Pedro Sula Honduras"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo Smelin","family":"Perdomo Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"GIMUNICAH Faculty of Medicine Universidad Cat\u00f3lica de Honduras San Pedro Sula Honduras"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid Yohaly","family":"Rivera Caballero","sequence":"additional","affiliation":[{"name":"GIMUNICAH Faculty of Medicine Universidad Cat\u00f3lica de Honduras San Pedro Sula Honduras"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelson A.","family":"Espinoza\u2010Moreno","sequence":"additional","affiliation":[{"name":"GIMUNICAH Faculty of Medicine Universidad Cat\u00f3lica de Honduras San Pedro Sula Honduras"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauricio E.","family":"Zavala Galeano","sequence":"additional","affiliation":[{"name":"GIMUNICAH Faculty of Medicine Universidad Cat\u00f3lica de Honduras San Pedro Sula Honduras"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara R.","family":"DuPont","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0612-8289","authenticated-orcid":false,"given":"H\u00e9ctor M.","family":"Ramos\u2010Zald\u00edvar","sequence":"additional","affiliation":[{"name":"GIMUNICAH Faculty of Medicine Universidad Cat\u00f3lica de Honduras San Pedro Sula Honduras"},{"name":"Faculty of Medicine Doctoral Program in Medical Sciences Pontificia Universidad Cat\u00f3lica de Chile Santiago de Chile Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1706537"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20157"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/postgradmedj-2019-136590"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3424"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36861"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33295"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.01.010"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32729"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33739"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2006.00912.x"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61258"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270223"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.93"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25243"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82547-8"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.86"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5604","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.5604","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.5604","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T21:56:42Z","timestamp":1692827802000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.5604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1002\/ccr3.5604"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.5604","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"2021-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e05604"}}