{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T11:00:53Z","timestamp":1776769253606,"version":"3.51.2"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7519,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a woman with profound mental retardation and a direct duplication of 16q and fragile site fra (10)(q25). The identification and possible origin of the duplicated 16q is discussed along with the clinical manifestations. To our knowledge this is the first direct duplication of 16q to be reported. The karyotype is shown to be 46,XX, dir dup (16) (q11.2 \u2192 q13).<\/jats:p>","DOI":"10.1002\/ajmg.1320190312","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:47:06Z","timestamp":1118537226000},"page":"507-513","source":"Crossref","is-referenced-by-count":10,"title":["Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient"],"prefix":"10.1002","volume":"19","author":[{"given":"Dennis R.","family":"Romain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan G.","family":"Frazer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia M.","family":"Columbano\u2010Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard G.","family":"Parfitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalind H.","family":"Smythe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril J.","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/BF00277648","article-title":"Partial trisomy 16q resulting from maternal translocation","volume":"49","author":"Balestrazzi P","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.483"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140114"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.3.239"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273489"},{"key":"e_1_2_1_7_1","first-page":"126","article-title":"Expression of fragile site at 10q25 in normal culture conditions (Letter to the Editor)","volume":"35","author":"Petit P","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","first-page":"628","article-title":"Heritable fragile sites and lymphocyte culture medium containing BrdU. (Letter to the Editor)","volume":"32","author":"Scheres JMJC","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278847"},{"key":"e_1_2_1_10_1","first-page":"1","article-title":"Counterstain: Enhanced chromosome banding","volume":"57","author":"Schweizer D","year":"1981","journal-title":"Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"542","article-title":"Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression","volume":"32","author":"Sutherland GR","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","first-page":"946","article-title":"Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU requiring fra(10)(q25) are phenotypically normal","volume":"33","author":"Sutherland GR","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"753","article-title":"Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU\u2010requiring fragile site at 10q25","volume":"34","author":"Sutherland GR","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","first-page":"123","article-title":"Spontaneous expression of the chromosome fragile site fra(10)(q25)","volume":"35","author":"Taylor AMR","year":"1983","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T02:08:55Z","timestamp":1697767735000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,11]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1984,11]]}},"alternative-id":["10.1002\/ajmg.1320190312"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190312","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,11]]}}}