{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:57:23Z","timestamp":1789750643303,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,3,14]],"date-time":"2002-03-14T00:00:00Z","timestamp":1016064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,4,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 40\u2010year\u2010old female with mild mental retardation and behavior problems and her 6\u2010year\u2010old daughter. Chromosome analysis showed that both patients had a proximal duplication in the short arm of chromosome 16. The aberration was characterized further with band\u2010specific probes, resulting in a 46,XX,dir dup(16)(pter\u2009\u2192\u2009p11.2::p12.1\u2009\u2192\u2009qter) karyotype. The clinical and cytogenetical findings are compared to other patients with partial trisomy 16p reported in the literature. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10287","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:24:15Z","timestamp":1030317855000},"page":"149-153","source":"Crossref","is-referenced-by-count":18,"title":["Duplication of chromosome region (16)(p11.2\u2009\u2192\u2009p12.1) in a mother and daughter with mild mental retardation"],"prefix":"10.1002","volume":"109","author":[{"given":"J.J.M.","family":"Engelen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.E.M.","family":"de Die\u2010Smulders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Dirckx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.M.A.","family":"Verhoeven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Tuinier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.M.G.","family":"Curfs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.J.H.","family":"Hamers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,3,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050938"},{"key":"e_1_2_6_3_1","first-page":"49","volume-title":"Toward the prevention of fetal malformation","author":"Boue A","year":"1978"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360110"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(67)90488-7"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<219::AID-AJMG19>3.0.CO;2-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140114"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.1.60"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00277681","article-title":"De novo trisomy 16q11\u2009\u2192\u2009pter","volume":"49","author":"Dallapicola B","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_6_10_1","first-page":"335","article-title":"An integrated physical map of human chromosome 16","volume":"377","author":"Doggett NA","year":"1995","journal-title":"Nature"},{"key":"e_1_2_6_11_1","first-page":"91","article-title":"High resolution R\u2010 and G\u2010banding in the same preparation","volume":"57","author":"Dutrillaux B","year":"1988","journal-title":"Hum Genet"},{"key":"e_1_2_6_12_1","first-page":"587","article-title":"Trisomia partial 16p de novo","volume":"15","author":"Gabarron Llamas VG","year":"1981","journal-title":"An Esp Pediatr"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.18.120184.000441"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320540316"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293904"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370426"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(00)01021-2"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430324"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790090"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00702870"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283058"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00196238"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s007020170039"},{"key":"e_1_2_6_24_1","first-page":"205","article-title":"Prader\u2010Willi psychiatric syndrome and velo\u2010cardio\u2010facial psychiatric syndrome","volume":"11","author":"Verhoeven WMA","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00402163"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10287","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T08:24:12Z","timestamp":1696753452000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,14]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,4,22]]}},"alternative-id":["10.1002\/ajmg.10287"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10287","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3,14]]}}}