{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:26:28Z","timestamp":1759332388465},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T00:00:00Z","timestamp":1144281600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication.<\/jats:p><\/jats:sec><jats:sec><jats:title>CASE<\/jats:title><jats:p>We present a 4.5\u2010year\u2010old girl with a de novo direct duplication of chromosome 5q15\u2010q23.2. She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous nose, epicanthic folds, protruding tongue, and slightly posteriorly\u2010rotated ears.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>A comparison is made with other similar duplication cases reported in the literature and a general description of a proximal 5q duplication phenotype is given, with lack of speech as the principal feature. Birth Defects Research (Part A), 2006. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20244","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T18:16:57Z","timestamp":1144347417000},"page":"272-276","source":"Crossref","is-referenced-by-count":7,"title":["Duplication of 5q15\u2010q23.2: Case report and literature review"],"prefix":"10.1002","volume":"76","author":[{"given":"Jaclyn","family":"Douyard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Hawley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meira","family":"Shaham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,4,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001023)94:5<392::AID-AJMG10>3.0.CO;2-H"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20568"},{"key":"e_1_2_5_4_1","first-page":"109","article-title":"Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3)","volume":"46","author":"Bocian E","year":"2005","journal-title":"J Appl Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216455"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190419"},{"key":"e_1_2_5_7_1","first-page":"186","article-title":"Distinct dysmorphic syndrome in a child with inverted distal 5q duplication","volume":"30","author":"Fryns JP","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.465"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.418"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00271576","article-title":"Tandem duplication (5q13\u201322) in a mentally deficient girl","volume":"52","author":"Kessel E","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.3.180"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.8.586"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10261"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<75::AID-AJMG15>3.0.CO;2-P"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<361::AID-AJMG3>3.0.CO;2-W"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420250211"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291766"},{"key":"e_1_2_5_18_1","first-page":"228","article-title":"Tandem duplication of proximal 5q","volume":"33","author":"Rojas\u2010Martinez A","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(00)01024-8"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330215"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20244","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T12:27:45Z","timestamp":1697459265000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1002\/bdra.20244"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20244","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4]]}}}