{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T04:13:44Z","timestamp":1782188024639,"version":"3.54.5"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9649,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis\u2010like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,\u201321\/46,XX,del(21)(q11) 46,XX. The existence of these three lines suggests a possible explanation for the few cases of \u201ccomplete monosomy 21\u201d which have been reported.<\/jats:p>","DOI":"10.1002\/ajmg.1320040311","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:32:43Z","timestamp":1118511163000},"page":"279-286","source":"Crossref","is-referenced-by-count":21,"title":["Monosomy 21: A possible stepwise evolution of the karyotype"],"prefix":"10.1002","volume":"4","author":[{"given":"Dvorah","family":"Abeliovich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Carmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Karplus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Bar\u2010Ziv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimon M.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"303","article-title":"Ein Fall mit einem Mosaik partielle Monosomie G\/Monosomie G in den Lymphocyten peripheren Blutes","volume":"6","author":"Bauchinger M","year":"1968","journal-title":"Humangenetik"},{"key":"e_1_2_1_3_1","first-page":"625","article-title":"Les avortements spontan\u00e9s humains. Etudes cytog\u00e9netiques et \u00e9pid\u00e9miologiques","volume":"68","author":"Bou\u00e9 JG","year":"1973","journal-title":"Rev Gyn\u00e9col"},{"key":"e_1_2_1_4_1","first-page":"791","article-title":"Malformations multiples chez un enfant porteur d'une monosomie partielle pour un chromosome 21\u201322","volume":"74","author":"Broyer M","year":"1966","journal-title":"Presse M\u00e9d"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420050109"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.44.233.113"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000129946"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130691"},{"key":"e_1_2_1_9_1","first-page":"1069","article-title":"Monosomie 21 avec mosaique 45,XX,21\u2010\/46,XX,21 pi","volume":"27","author":"Emberger JM","year":"1970","journal-title":"Arch Pediatr"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(66)91140-8"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00393578"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.4.496"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.1.110"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.4.386"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273344"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00527395"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/0002-9378(70)90053-0","article-title":"Monosomy of a G chromosome in spontaneous abortions","volume":"106","author":"Larson SL","year":"1970","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_18_1","first-page":"4187","article-title":"Monosomie partielle pour une petite acrocentrique","volume":"259","author":"Lejeune J","year":"1964","journal-title":"C R Acad Sci (Paris)"},{"key":"e_1_2_1_19_1","first-page":"265","article-title":"Identification by fluorescence of two G\u2010rings (46,XY, 21r) G deletion syndrome I and (46,XX,22r) G deletion syndrome II","volume":"15","author":"Magenis RE","year":"1972","journal-title":"Ann Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273474"},{"key":"e_1_2_1_21_1","first-page":"115","article-title":"Mosaic 45,XY,\u201021\/46,XY in a child with G deletion syndrome 1","volume":"20","author":"Olinici CD","year":"1977","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.173.3999.821"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(66)91391-2"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1973.tb08096.x"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569984"},{"key":"e_1_2_1_26_1","first-page":"255","article-title":"Monosomy G Mosaicism in two unrelated children","volume":"12","author":"Schulz J","year":"1968","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291128"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320040311","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320040311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:53:27Z","timestamp":1699836807000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320040311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320040311"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320040311","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}