{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T12:28:43Z","timestamp":1772886523372,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,19]],"date-time":"2009-10-19T00:00:00Z","timestamp":1255910400000},"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":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Partial duplication 3q is a well defined clinical entity characterized by growth retardation, cryptorchism, microcephaly, and characteristic dysmorphisms. Most patients present with large duplications or are associated with a second chromosomal imbalance, which makes the definition of the phenotype difficult. Here, we report on a 4\u2010year and 8\u2010month\u2010old girl with pre\u2010 and postnatal measurements in the high normal range, developmental delay, minor dysmorphic features, and a de novo unbalanced 3\/4 translocation with trisomy 3q27\u2009\u2192\u2009qter and monosomy of the subtelomeric region of 4p. Conventional karyotyping, FISH with probes from the Wolf\u2013Hirschhorn syndrome critical region and chromosome 4p locus\u2010specific probes, microsatellite marker\u2010based haplotyping, and SNP microarray copy number analysis revealed a terminal 4p deletion of less than 500\u2009kb with a breakpoint distal to the Wolf\u2013Hirschhorn syndrome critical region, a chromosome 3q duplication of around 15.3\u2009Mb, with origin of the rearrangement in paternal meiosis. Thus, our case clearly characterizes the phenotype of pure partial duplication 3q more exactly, and moreover, indicates that small chromosome rearrangements might lead to growth in the upper normal range or even cause overgrowth. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33058","type":"journal-article","created":{"date-parts":[[2009,10,19]],"date-time":"2009-10-19T20:34:21Z","timestamp":1255984461000},"page":"2522-2526","source":"Crossref","is-referenced-by-count":17,"title":["\u201cEssentially\u201d pure trisomy 3q27\u2009\u2192\u2009qter: Further delineation of the partial trisomy 3q phenotype"],"prefix":"10.1002","volume":"149A","author":[{"given":"Vera","family":"Grossmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilfried","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friedrich","family":"Fresser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Erdel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerd","family":"Utermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Kotzot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550111"},{"key":"e_1_2_7_3_1","first-page":"95","article-title":"Probing the human genome in search for a new 3q syndrome","volume":"42","author":"Azar GM","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-8"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31042"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620411.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1542\/peds.37.1.92","article-title":"Familial de Lange syndrome with chromosome abnormalities","volume":"37","author":"Falek A","year":"1966","journal-title":"Pediatrics"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31723"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32190"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30384"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00545.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032268"},{"key":"e_1_2_7_13_1","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30188"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016865"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81077-4"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058370"}],"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.33058","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33058","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:36:43Z","timestamp":1697632603000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,28]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/ajmg.a.33058"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33058","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,28]]}}}