{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:32:01Z","timestamp":1774611121175,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4206,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have used 9 conventional RFLPs and 6 dinucleotide repeat polymorphisms on chromosome 21q to demonstrate that 17 of 19 cases of rea(21q21q) were consistent with isochromosomes i(21q) with the remaining 2 being true Robertsonian translocations. Eight of the 17 isochromosomes were of maternal origin and 9 cases were paternally derived. The 2 Robertsonian translocations were both maternally derived. Of the 17 isochromosomes, 7 were dicentric Wc(21q)I and 10 were monocentric M21q)l. Both rob(21q21q) were monocentric. Our findings agree with those made in 17 previously published cases of rea(21q21q). The parental origins of the i(21q) were equally divided between maternal (n = 17) and paternal (n = 15) origins. All 4 true rob(21q21q) reported to date are of maternal origin. Collectively, it appears that most homologous rearrangements of chromosome 21 are isochromosomes and only a small proportion are consistent with true Robertsonian translocations. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470818","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:42:04Z","timestamp":1118508124000},"page":"1218-1222","source":"Crossref","is-referenced-by-count":43,"title":["Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or robertsonian translocations in down syndrome"],"prefix":"10.1002","volume":"47","author":[{"given":"Lisa G.","family":"Shaffer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"McCaskill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vickie","family":"Haller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith A.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen K.","family":"Jackson\u2010Cook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"968","article-title":"Analysis of DNA polymorphisms suggest that most de novo dup(21q) chromosomes in ptients with Down syndrome are isohromosomes and not transloctions","volume":"47","author":"Antonarakis SE","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199103283241302"},{"key":"e_1_2_1_4_1","first-page":"61","volume-title":"Humn Cytogenetics: A Practical Approach","author":"Benn PA","year":"1986"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370725"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.16.4969"},{"key":"e_1_2_1_7_1","first-page":"344","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1984"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210673"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01498.x"},{"key":"e_1_2_1_10_1","first-page":"20","volume-title":"An International System for Human Cytogenetic Nomenclature","author":"Harnden DG","year":"1985"},{"key":"e_1_2_1_11_1","first-page":"44","article-title":"Mutation rates of structural chromosomes rearrangements in man","volume":"33","author":"Jacobs PA","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","first-page":"25","volume-title":"Guidelines for Cancer Cytogenetics. 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