{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:56Z","timestamp":1761718076092,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:p>A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.1) is described and compared with one other reported case. A beak like nose with hypoplastic nasal alae, a thin upper lip, failure to thrive in infancy with later onset of obesity, and severe mental retardation are features common to both.<\/jats:p>","DOI":"10.1136\/jmg.24.11.709","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"709-712","source":"Crossref","is-referenced-by-count":21,"title":["Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5."],"prefix":"10.1136","volume":"24","author":[{"given":"M Y","family":"Yip","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Selikowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Don","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Kovacic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Purvis-Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P R","family":"Lam-Po-Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,11,1]]},"reference":[{"key":"ref_1","article-title":"Chro, nosotnal variationt int maot. A catalog of chromnosomnal variants and atnotnalie.s","author":"Borgaonkar, D.S.; Shaffer, R.; Rced, W.C.; Jackson, L.G.","year":"1984","unstructured":"Borgaonkar DS, Shaffer R, Rced WC, Jackson LG. Chro,nosotnal variationt int maot. A catalog of chromnosomnal variants and atnotnalie.s. 4th ed. New York: Alan R Liss, 1984.","edition":"4th ed"},{"key":"ref_2","first-page":"26","article-title":"Congenital heart disease with dcl(15q) mosaicism","volume":"17","author":"Icerva, R, Vuorinen 0","year":"1980","unstructured":"Icerva R, Vuorinen 0. Congenital heart disease with dcl(15q) mosaicism. Clint Gettet 1980;17:26-8.","journal-title":"Clint Gettet"},{"key":"ref_3","first-page":"59","article-title":"Interstitial deletion of the long arm of chromosome","volume":"25","author":"de Muelenaere A. van den Bcrghe H, Fryns J.P.","year":"1982","unstructured":"Fryns JP. de Muelenaere A. van den Bcrghe H. Interstitial deletion of the long arm of chromosome 15. Anti Genet (Paris) 1982;25:59-60).","journal-title":"15. Anti Genet (Paris)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/ajmg.1320190409","article-title":"Del(15)(q22q24) syndrome with Potter sequence","volume":"19","author":"Clark, R.D.","year":"1984","unstructured":"Clark RD. Del(15)(q22q24) syndrome with Potter sequence. Ain J Med Genet 1984;19:703-5.","journal-title":"Ain J Med Genet"},{"key":"ref_5","first-page":"418","article-title":"ancusomie de recomhinaison\"","volume":"12","year":"1975","unstructured":"ancusomie de recomhinaison\". J Med Genet 1975;12:418-23.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.11.4.353","article-title":"Familial mental retardation in a family with an inherited chromosome rearrangement","volume":"11","author":"Chudley, A.E.; Bauder, F.; Ray, M.; McAlpine, P.J.; Pena, S.D.J.; Hamerton, J.L.","year":"1974","unstructured":"Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL. Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet 1974; 11:353-63.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jmg.15.5.382","article-title":"Segregation of an insertional chromosome rearrangement in three generations","volume":"15","author":"Toomey, K.E.; Mohandas, T.; Sparkes, R.S.; Kaback, M.M.; Rimoin, D.L.","year":"1978","unstructured":"Toomey KE, Mohandas T, Sparkes RS, Kaback MM, Rimoin DL. Segregation of an insertional chromosome rearrangement in three generations. J Med Genet 1978;15:382-7.","journal-title":"J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/ajmg.1320090204","article-title":"Familial insertional translocation of a portion of 3q into I q resulting in duplication and deletion of region 3q22-1q24 in different offspring","volume":"9","author":"Williamson, R.A.; Donlan, M.A.; Dolan, C.R.; Thuline, H.C.; Harrison, M.T.; Hall, J.G.","year":"1981","unstructured":"Williamson RA, Donlan MA, Dolan CR, Thuline HC, Harrison MT, Hall JG. Familial insertional translocation of a portion of 3q into I q resulting in duplication and deletion of region 3q22-1q24 in different offspring. Am J Med Genet 1981;9: 105-11.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.11.709","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:35:54Z","timestamp":1760726154000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.11.709"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,11]]},"references-count":8,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1987,11,1]]},"published-print":{"date-parts":[[1987,11]]}},"alternative-id":["10.1136\/jmg.24.11.709"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.11.709","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,11]]}}}