{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T04:13:46Z","timestamp":1782188026299,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T00:00:00Z","timestamp":1639094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Monosomy 21 is an exceedingly rare and fatal chromosomal anomaly. Mosaic monosomy 21, however, can be observed in living patients. There have been discussions on whether there are liveborn cases with true mosaic full monosomy 21. Here, we report the case of a 13\u2010year\u2010old patient with mosaic full monosomy 21 who presented with postnatal microcephaly, low weight, facial dysmorphisms, developmental delay, and severe intellectual disability. To the best of our knowledge, this is the oldest patient with mosaic full monosomy 21 described so far and the first reported in Brazil.<\/jats:p>","DOI":"10.1002\/ajmg.a.62583","type":"journal-article","created":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T12:07:17Z","timestamp":1639138037000},"page":"953-958","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["High\u2010level mosaic monosomy 21 in a 13\u2010year\u2010old girl: Case report and review of the literature"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1573-4176","authenticated-orcid":false,"given":"Melissa Machado","family":"Viana","sequence":"first","affiliation":[{"name":"Servi\u00e7o Especial de Gen\u00e9tica M\u00e9dica Hospital das Cl\u00ednicas, Universidade Federal de Minas Gerais  Minas Gerais Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle Sousa","family":"Vianna","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio C\u00f3don Biotecnologia  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elen Rose Fontoura","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio C\u00f3don Biotecnologia  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena Beatriz Belo Lisboa Martins","family":"da Costa","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio C\u00f3don Biotecnologia  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos Jos\u00e9 Burle","family":"de Aguiar","sequence":"additional","affiliation":[{"name":"Servi\u00e7o Especial de Gen\u00e9tica M\u00e9dica Hospital das Cl\u00ednicas, Universidade Federal de Minas Gerais  Minas Gerais Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040311"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.7.534"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5185"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/965401"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.86"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-200602001-00041"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970130303"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35462"},{"key":"e_1_2_8_10_1","first-page":"390","article-title":"Incomplete EEC syndrome in a patient with mosaic monosomy 21","volume":"15","author":"Jamehdor M.","year":"1978","journal-title":"The Cleft Palate\u2010Craniofacial Journal"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097-0223(199703)17:3<271::aid-pd51>3.0.co;2-p"},{"key":"e_1_2_8_12_1","first-page":"99","article-title":"Polymorphism of restriction fragment length in the detection of the precise status of monosomy 21 in a deformed retarded girl","volume":"36","author":"Kitsiou S.","year":"1988","journal-title":"Journal of Human Genetics"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35251"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283407"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/16.6.1100"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.2009.01140.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20622"},{"key":"e_1_2_8_18_1","first-page":"115","article-title":"Mosaic 45,xy,\u201021\/46,xy in a child with G deletion syndrome I","volume":"20","author":"Olinici C. 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