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We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung's disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.<\/jats:p>","DOI":"10.1002\/ajmg.a.62471","type":"journal-article","created":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T07:20:55Z","timestamp":1630567255000},"page":"3507-3509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The first <scp>post\u2010natal<\/scp> clinical description of true mosaic complete tetrasomy 21: A case report"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2818-8338","authenticated-orcid":false,"given":"Desalyn Louise","family":"Johnson","sequence":"first","affiliation":[{"name":"School of Medicine University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7338-6619","authenticated-orcid":false,"given":"Caterina","family":"Abdala Villa","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"},{"name":"Department of Pediatrics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9638-0930","authenticated-orcid":false,"given":"Matthew C.","family":"Lustig","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alabama at Birmingham  Birmingham Alabama USA"},{"name":"Department of Neurology University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9995-547X","authenticated-orcid":false,"given":"Nathaniel H.","family":"Robin","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"},{"name":"Department of Pediatrics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.12.016"},{"issue":"59","key":"e_1_2_5_3_1","first-page":"A409","article-title":"Tetrasomy 21 confined placental mosaicism ascertained through chorionic villus sampling","volume":"59","author":"Best R. 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