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In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30532","type":"journal-article","created":{"date-parts":[[2005,1,22]],"date-time":"2005-01-22T01:59:09Z","timestamp":1106359149000},"page":"193-196","source":"Crossref","is-referenced-by-count":7,"title":["Supernumerary ring chromosome 20 in a mother and her child"],"prefix":"10.1002","volume":"133A","author":[{"given":"M.R.","family":"Pinto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Fonseca e Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Aguiar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Quelhas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.R.","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<171::AID-AJMG2>3.0.CO;2-Z"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150203"},{"key":"e_1_2_6_4_1","first-page":"433","article-title":"Characterization of supernumerary ring marker chromosomes by Fluorescence in situ hybridization (FISH)","volume":"53","author":"Blennow E","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","first-page":"769","article-title":"Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics","volume":"48","author":"Callen DF","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_6_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_6_7_1","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner RJM","year":"1996"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03398.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03520.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.964"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200912"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500210"},{"key":"e_1_2_6_13_1","first-page":"667","article-title":"Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region","volume":"57","author":"Mears AJ","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb04325.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<278::AID-AJMG12>3.0.CO;2-I"}],"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.30532","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30532","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:43:23Z","timestamp":1697597003000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,21]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1002\/ajmg.a.30532"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30532","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,21]]}}}