{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:36:23Z","timestamp":1791081383387,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T00:00:00Z","timestamp":1312329600000},"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":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Larger imbalances on chromosome 4p in the form of deletions associated with Wolf\u2013Hirschhorn syndrome (WHS) and duplications of chromosome 4p have a defined clinical phenotype. The critical region for both these clinical disorders has been narrowed based on the genotype\u2013phenotype correlations. However, cryptic rearrangements in this region have been reported infrequently. We report on a male patient with a microduplication of chromosome 4p, who presents with findings of macrocephaly, irregular iris pigmentation\u2010heterochromia, and preserved linear growth in addition to overlapping features of trisomy 4p such as seizures, delayed psychomotor development, and dysmorphic features including prominent glabella, low\u2010set ears, and short neck. Using a high\u2010density oligonucleotide microarray, we have identified a novel submicroscopic duplication involving dosage sensitive genes <jats:italic>TACC3<\/jats:italic>, <jats:italic>FGFR3<\/jats:italic>, and <jats:italic>LETM1<\/jats:italic>. The microduplication did not involve <jats:italic>WHSC1<\/jats:italic> and <jats:italic>WHSC2<\/jats:italic> which are considered in the critical region for WHS and trisomy 4p. This patient's presentation and genomic findings help further delineate clinical significance of re\u2010arrangements in the 4p16 region without the involvement of WHS critical region. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34120","type":"journal-article","created":{"date-parts":[[2011,8,4]],"date-time":"2011-08-04T00:11:35Z","timestamp":1312416695000},"page":"2224-2228","source":"Crossref","is-referenced-by-count":21,"title":["A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features"],"prefix":"10.1002","volume":"155","author":[{"given":"Andrew B.","family":"Cyr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjunath","family":"Nimmakayalu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susannah Q.","family":"Longmuir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivanand R.","family":"Patil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim M.","family":"Keppler\u2010Noreuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oleg A.","family":"Shchelochkov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,8,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<76::AID-AJMG1389>3.0.CO;2-4"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31057"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.18.6648-6660.2002"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5881"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32992"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010202"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.02.004"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm154"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107680.110"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.21.9935"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.4.769"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403607200"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32888"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02029349"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2008.06.005"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000227833"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32215"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30188"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209172"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.026625"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.7.2.164"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22013"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2007.00433.x"}],"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.34120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:52:10Z","timestamp":1697651530000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,3]]},"references-count":24,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1002\/ajmg.a.34120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34120","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,3]]}}}