{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:49:05Z","timestamp":1764172145752},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T00:00:00Z","timestamp":1430784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"EMBRI","award":["2012EMBRISN0004"],"award-info":[{"award-number":["2012EMBRISN0004"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:sec><jats:label \/><jats:p>Partial trisomy of 11q is characterized by pre\/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17\u2010year\u2010old male with a 17.77\u2009Mb\u2010sized [arr 11q23.3\u2010q25 (116,667,559 \u2013134,434,130) \u00d73] partial trisomy resulting from the unbalanced translocation between chromosomes 11 and 22. The terminal translocation was detected using oligonucleotide array comparative genomic hybridization (CGH) with fluorescence in situ hybridization (FISH) confirmation. The partial trisomy was inherited from his mother who had the low\u2010level (22.7%) mosaic unbalanced translocation and a normal phenotype. The patient showed most of the common features of partial trisomy 11q syndrome, with additional findings, including mesenteric fibromatosis. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36980","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T22:51:04Z","timestamp":1430866264000},"page":"1859-1864","source":"Crossref","is-referenced-by-count":5,"title":["Partial trisomy of 11q23.3\u2010q25 inherited from a maternal low\u2010level mosaic unbalanced translocation"],"prefix":"10.1002","volume":"167","author":[{"given":"Jungyoon","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Eulji General Hospital College of Medicine Eulji University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hojung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology Eulji General Hospital College of Medicine Eulji University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cha Gon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Eulji General Hospital College of Medicine Eulji University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35259"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.01.017"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1308\/147870806X95212"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32906"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32957"},{"key":"e_1_2_6_7_1","first-page":"237935","article-title":"Derivative 11;22 (emanuel) syndrome: A case report and a review","volume":"2013","author":"Choudhary MG","year":"2013","journal-title":"Case Rep Pediatr"},{"key":"e_1_2_6_8_1","first-page":"167","article-title":"Duplication 11 (q21 to 23 leads to qter) syndrome","volume":"13","author":"Francke U","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.07.009"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33278"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.04.053"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31321"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2006.05.035"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.11.1665"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-9"},{"key":"e_1_2_6_16_1","first-page":"1","article-title":"Korean National Growth Charts: Review of developmental process and an outlook","volume":"51","author":"Moon JS","year":"2008","journal-title":"2007"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12437"},{"key":"e_1_2_6_18_1","first-page":"676","article-title":"Clinical and molecular characterization of patients with distal 11q deletions","volume":"56","author":"Penny LA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278696"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.10.006"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.2478\/v10019-010-0051-7"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20610"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31519"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328349bcf8"}],"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.36980","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36980","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:01:11Z","timestamp":1696590071000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36980"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,5]]},"references-count":23,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/ajmg.a.36980"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36980","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,5]]}}}