{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T17:34:50Z","timestamp":1774460090089,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,9]]},"abstract":"<jats:p>An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations. High resolution chromosome analysis identified a de novo direct duplication of the 2p21.00--&gt;p24.2 region. The phenotype of de novo partial trisomy 2p is discussed.<\/jats:p>","DOI":"10.1136\/jmg.34.9.783","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"783-786","source":"Crossref","is-referenced-by-count":17,"title":["Interstitial duplication of the short arm of chromosome 2: report of a new case and review."],"prefix":"10.1136","volume":"34","author":[{"given":"A","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Souraty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Prieur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Theophile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Ch\u00e9did","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Aug\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/ajmg.1320150310","article-title":"Variable phenotype associated with duplication of different regions of 2p","volume":"15","author":"Fineman, R.; Buyse, M.; Morgan, M.","year":"1983","unstructured":"Fineman R, Buyse M, Morgan M. 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The 2p partial trisomy syndrome: duplication of region 2p23-2pter in 2 members of a t(2;7) translocation kindred. Am Dis Child 1976;130: 1244-9.","journal-title":"Am Dis Child"},{"key":"ref_12","article-title":"Syndromes of the head and neck","author":"Gorlin, R.; Cohen, M.; Levin, L.S.","unstructured":"Gorlin R, Cohen M, Levin LS. Syndromes of the head and neck. 3rd ed. Oxford: Oxford University Press, 1990:70.","edition":"3rd ed"},{"issue":"8","key":"ref_13","first-page":"94","article-title":"Familiare 2\/Ctranslokation: 46, XY, t(2p-; Cp+) und 46, XX, Cp+","volume":"1969","author":"Bender, K.; Reinwein, H.; Gorman, L.; Wolf, U.","unstructured":"Bender K, Reinwein H, Gorman L, Wolf U. Familiare 2\/Ctranslokation: 46,XY,t(2p-;Cp+) und 46,XX,Cp+. Humangenetik 1969;8:94-104.","journal-title":"Humangenetik"},{"key":"ref_14","first-page":"172","article-title":"Partial trisomy 2p due to a familial translocation 2\/6. 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