{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970107},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8433,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A ring chromosome 6 was identified in an apparently healthy girl with short stature and microcephaly. Of 100 peripheral lymphocyte metaphases analyzed, chromosome 6 was replaced in 73% by a monocentric ring chromosome, in 10% by a dicentric, in 1% by a tricentric, and 3% by two rings. Thirteen other cells were 45,XX, \u22126, which may represent 46,XX,r(6)\/45,XX, \u22126 mosaicism. The breakpoints were located on bands p24 or p25 and q26 or q27. Eight other patients with a ring chromosome 6 have been reported. The most characteristic findings in subjects with a ring chromosome 6 are mental retardation and eye and ear abonormalities, none of which were present in our patient.<\/jats:p>","DOI":"10.1002\/ajmg.1320120115","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:42:01Z","timestamp":1118515321000},"page":"109-114","source":"Crossref","is-referenced-by-count":26,"title":["Ring chromosome 6: Case report and review"],"prefix":"10.1002","volume":"12","author":[{"given":"Yoshikazu","family":"Nishi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Yoshimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koso","family":"Ohama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomofusa","family":"Usui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.299"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040310"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1093\/genetics\/23.4.315","article-title":"The production of homozygous deficient tissues with mutant characteristics by means of the aberrent mitotic behavior of ring\u2010shape chromosome","volume":"43","author":"McClintock B","year":"1938","journal-title":"Genetics"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1093\/genetics\/43.1.86","article-title":"On the stabilization of a ring chromosome in maize","volume":"43","author":"Schwartz D","year":"1958","journal-title":"Genetics"},{"key":"e_1_2_1_6_2","first-page":"304","article-title":"Comparative behavior of ring chromosome","volume":"22","author":"Kistenmacher ML","year":"1970","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01516.x"},{"key":"e_1_2_1_8_2","first-page":"184","article-title":"Mental deficiency and malformations in a boy with a group\u2010C ring chromosome: 46, XY, Cr","volume":"13","author":"Wurster D","year":"1969","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_9_2","first-page":"145","article-title":"Banding identification of chromosomal abnormalities in four patients: ring (6), translocation (2q\u2013; 15+), translocation (21q; 21q). and deletion (22q\u2013)","volume":"19","author":"Wurster\u2010Hill DH","year":"1975","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390235"},{"key":"e_1_2_1_11_2","first-page":"29","article-title":"Caromosome 6 en anneau caryotyotype 46, XY, r(6)\/4,XY,\u20136","volume":"17","author":"Van den Berghe H","year":"1974","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00318.x"},{"key":"e_1_2_1_13_2","first-page":"232","article-title":"Chromosome 6 en anneau: Un tableau clinique peu specifique","volume":"20","author":"Sele B","year":"1977","journal-title":"Ann Genet (Paris)"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320120115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320120115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T02:01:14Z","timestamp":1699840874000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320120115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,5]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1982,5]]}},"alternative-id":["10.1002\/ajmg.1320120115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320120115","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,5]]}}}