{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:58:05Z","timestamp":1773269885828,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T00:00:00Z","timestamp":1279152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 16q21\u2009\u2192\u2009qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7\u2010year follow\u2010up of a female patient with trisomy 16q21\u2009\u2192\u2009qter due to a maternal balanced translocation t(4;16)(q35.2;q21). The patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. The derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAC probes and the array technique, in order to map the breakpoints. The patient has a 16q21\u2009\u2192\u2009qter duplication, with a 4q35\u2009\u2192\u2009qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33524","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T16:22:20Z","timestamp":1279210940000},"page":"2074-2078","source":"Crossref","is-referenced-by-count":2,"title":["Trisomy 16q21\u2009\u2192\u2009qter: Seven\u2010year follow\u2010up of a girl with unusually long survival"],"prefix":"10.1002","volume":"152A","author":[{"given":"Ac\u00e1cia Fernandes Lacerda","family":"de Carvalho","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda Teixeira","family":"da Silva Bellucco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Normeide Pedreira","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Pellegrino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00edlia Maria","family":"de Azevedo Moreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Betania Pereira","family":"Toralles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie Domenici","family":"Kulikowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,20]]},"reference":[{"key":"e_1_2_5_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_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<121::AID-AJMG8>3.0.CO;2-T"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.10740"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0557-x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.8.525"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00826-7"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273489"},{"key":"e_1_2_5_9_1","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner RJM","year":"2004"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31045"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.63"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.801"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6620908"},{"key":"e_1_2_5_14_1","first-page":"121","article-title":"Duplication 16q12\u2009\u2192\u2009qter arising from 3:1 segregation in a 46,XX,t(13;16) (q12;q12) mother","volume":"33","author":"Perez\u2010Castillo A","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.375"},{"key":"e_1_2_5_16_1","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2004.tb03032.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200510000-00002"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.366"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.5.581"}],"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.33524","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33524","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T20:08:22Z","timestamp":1696709302000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33524"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,20]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1002\/ajmg.a.33524"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33524","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,20]]}}}