{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074077,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,6]]},"abstract":"<jats:p>We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion reported to date.<\/jats:p>","DOI":"10.1136\/jmg.20.3.199","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"199-202","source":"Crossref","is-referenced-by-count":55,"title":["Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36)."],"prefix":"10.1136","volume":"20","author":[{"given":"R S","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S D","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K L","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L K","family":"Hine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D E","family":"Rainosek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F A","family":"Guerra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,6,1]]},"reference":[{"key":"ref_1","first-page":"504","article-title":"t(2q -; 13q+) complement: case report and review","volume":"8","author":"X.Y.","year":"1971","unstructured":",XY,t(2q -;13q+) complement: case report and review. J Med Genet 1971;8:504-7.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"489","article-title":"De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn-karyotype: 46, XY, del(2)(ql2ql4)","volume":"19","author":"Antich, J.; Carbonell, X.; Clusellas, N.","year":"1981","unstructured":"Antich J, Carbonell X, Clusellas N. De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn-karyotype: 46,XY,del(2)(ql2ql4). Clin Genet 1981;19:489.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/BF00287018","article-title":"Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46, XX, del(2)(q21q24)","volume":"39","author":"Fryns, J.P.; Van Bosstraeten, B.; Malbrain, H.; Van den Berghe, H.","year":"1977","unstructured":"Fryns JP, Van Bosstraeten B, Malbrain H, Van den Berghe H. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21q24). Hum Genet 1977;39:233-8.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S0046-8177(80)80146-8","article-title":"Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy","volume":"11","author":"McConnell, T.S.; Kornfeld, M.; McClellan, G.; Aase, J.","year":"1980","unstructured":"McConnell TS, Kornfeld M, McClellan G, Aase J. Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy. Hum Pathol 1980; 11:202-5.","journal-title":"Hum Pathol"},{"key":"ref_5","first-page":"245","article-title":"Interstitial deletion of the long arm of chromosome 2: case report and review of literature","volume":"24","author":"Taysi, K.; Dengler, D.R.; Jones, L.A.; Heersma, JR","year":"1981","unstructured":"Taysi K, Dengler DR, Jones LA, Heersma JR. Interstitial deletion of the long arm of chromosome 2: case report and review of literature. Ann Genet (Paris) 1981;24:245-7.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/BF00291510","article-title":"Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2)(q34q36)","volume":"32","author":"Warter, S.; Lausecker, C.; Pennerath, A.","year":"1976","unstructured":"Warter S, Lausecker C, Pennerath A. Etude chromosomique et clinique d'une fillette porteuse d'une deletion (2)(q34q36). Hum Genet 1976;32:225-7.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.3.199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:06:29Z","timestamp":1759687589000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.3.199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,6]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1983,6,1]]},"published-print":{"date-parts":[[1983,6]]}},"alternative-id":["10.1136\/jmg.20.3.199"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.3.199","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,6]]}}}