{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T18:09:22Z","timestamp":1777572562931,"version":"3.51.4"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2009,3,18]],"date-time":"2009-03-18T00:00:00Z","timestamp":1237334400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1038\/ejhg.2009.14","type":"journal-article","created":{"date-parts":[[2009,3,18]],"date-time":"2009-03-18T11:26:43Z","timestamp":1237375603000},"page":"1135-1140","source":"Crossref","is-referenced-by-count":18,"title":["16p subtelomeric duplication: a clinically recognizable syndrome"],"prefix":"10.1038","volume":"17","author":[{"given":"Maria Cristina","family":"Digilio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Capolino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Giulia","family":"Gagliardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,3,18]]},"reference":[{"key":"BFejhg200914_CR1","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1002\/ajmg.1320430324","volume":"43","author":"C Leonard","year":"1992","unstructured":"Leonard C, Huret JL, Imbert MC, Lebouc Y, Selva J, Boulley AM : Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature. Am J Med Genet 1992; 43: 621\u2013625.","journal-title":"Am J Med Genet"},{"key":"BFejhg200914_CR2","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1002\/ajmg.1320420311","volume":"42","author":"TA O'Connor","year":"1992","unstructured":"O'Connor TA, Higgins RR : Trisomy 16p in a liveborn infant and review of trisomy 16p. Am J Med Genet 1992; 42: 316\u2013319.","journal-title":"Am J Med Genet"},{"key":"BFejhg200914_CR3","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1159\/000484782","volume":"5","author":"A Schinzel","year":"1997","unstructured":"Schinzel A, Kotzot D, Brecevic L et al: Trisomy first, translocation second, umiparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. Eur J Hum Genet 1997; 5: 308\u2013314.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg200914_CR4","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<219::AID-AJMG19>3.0.CO;2-X","volume":"68","author":"JLC Juan","year":"1997","unstructured":"Juan JLC, Cigudosa JC, Gomez AO, Almeida MTA, Miranda LG : De novo trisomy 16p. Am J Med Genet 1997; 68: 219\u2013221.","journal-title":"Am J Med Genet"},{"key":"BFejhg200914_CR5","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/s002469900278","volume":"19","author":"HR Movahhedian","year":"1998","unstructured":"Movahhedian HR, Kashani DS, Bull D, Jones KL, Rothman A : Pulmonary hypertension and trisomy 16. Pediatr Cardiol 1998; 19: 187\u2013189.","journal-title":"Pediatr Cardiol"},{"key":"BFejhg200914_CR6","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/S0003-3995(00)01021-2","volume":"43","author":"N Kokalj-Vokac","year":"2000","unstructured":"Kokalj-Vokac N, Medica I, Zagorac A, Zagradisnik B, Erjavec A, Gregoric A : A case insertional translocation resulting in partial trisomy 16p. Ann Genet 2000; 43: 131\u2013135.","journal-title":"Ann Genet"},{"key":"BFejhg200914_CR7","first-page":"303","volume":"13","author":"M Tschernigg","year":"2002","unstructured":"Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM : Terminal tandem duplication of 16p: a case with \u2018pure\u2019 partial trisomy (16)(pter \u2192 p13). Genet Couns 2002; 13: 303\u2013307.","journal-title":"Genet Couns"},{"key":"BFejhg200914_CR8","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1136\/jmg.39.10.734","volume":"39","author":"CL Martin","year":"2002","unstructured":"Martin CL, Waggoner DJ, Wong A et al: \u2018Molecular rulers\u2019 for calibrating phenotypic effects of telomere imbalance. J Med Genet 2002; 39: 734\u2013740.","journal-title":"J Med Genet"},{"key":"BFejhg200914_CR9","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1002\/ajmg.a.31027","volume":"140A","author":"A Sommer","year":"2006","unstructured":"Sommer A, Pastore M, Wenger G : Trisomy 16p: a longitudinal profile and photo essay. Am J Med Genet 2006; 140A: 174\u2013179.","journal-title":"Am J Med Genet"},{"key":"BFejhg200914_CR10","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.ejmg.2005.05.009","volume":"48","author":"T De Ravel","year":"2005","unstructured":"De Ravel T, Aerssens P, Vermeesch JR, Fryns JP : Trisomy of chromosome 16p13.3 e to an unbalanced insertional translocation into chromosome 22q13. Eur J Med Genet 2005; 48: 355\u2013359.","journal-title":"Eur J Med Genet"},{"key":"BFejhg200914_CR11","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1111\/j.1399-0004.2007.00874.x","volume":"72","author":"EM Ruiter","year":"2007","unstructured":"Ruiter EM, Koolen DA, Kleefstra T et al: Pure subtelomeric microduplications as a cause of mental retardation. Clin Genet 2007; 72: 362\u2013368.","journal-title":"Clin Genet"},{"key":"BFejhg200914_CR12","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1002\/ajmg.a.32093","volume":"146A","author":"L Bernardini","year":"2008","unstructured":"Bernardini L, Palka C, Ceccarini C et al: Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. Am J Med Genet A 2008; 146A: 238\u2013244.","journal-title":"Am J Med Genet A"},{"key":"BFejhg200914_CR13","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1111\/j.1399-0004.1979.tb00991.x","volume":"16","author":"NJ Leschot","year":"1979","unstructured":"Leschot NJ, Denef JJ, Geraedts JPM et al: Five familial cases with a trisomy 16p syndrome due to translocation. Clin Genet 1979; 16: 205\u2013214.","journal-title":"Clin Genet"},{"key":"BFejhg200914_CR14","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.23.3.242","volume":"23","author":"S Ohdo","year":"1986","unstructured":"Ohdo S, Madokoro H, Sonoda T, Hayakawa K : Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 1986; 23: 242\u2013244.","journal-title":"J Med Genet"},{"key":"BFejhg200914_CR15","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1002\/ajmg.a.31605","volume":"143A","author":"MK Rochat","year":"2007","unstructured":"Rochat MK, Riegel M, Schinzel AA : Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. Am J Med Genet 2007; 143A: 399\u2013408.","journal-title":"Am J Med Genet"},{"key":"BFejhg200914_CR16","doi-asserted-by":"publisher","first-page":"2313","DOI":"10.1002\/ajmg.a.32460","volume":"146A","author":"G Marangi","year":"2008","unstructured":"Marangi G, Leuzzi V, Orteschi D et al: Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distintive phenotype. Am J Med Genet 2008; 146A: 2313\u20132317.","journal-title":"Am J Med Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg200914.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200914","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200914.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:57:46Z","timestamp":1684429066000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg200914"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,18]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["BFejhg200914"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2009.14","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,18]]}}}