{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:10:02Z","timestamp":1760731802532,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,8]]},"abstract":"<jats:p>We report a boy with a trichorhinophalangeal syndrome (TRP syndrome), severe mental retardation, and transient megacephaly, whose karyotype showed complex, apparently balanced, translocations with breakpoints in bands 3q13, 8p22, 8q13, 11p12, and 11q21. The fact that cases presenting with phenotypes corresponding to the TRP II syndrome and deletions of the long arm of chromosome 8 have been recently reported prompted us to report this case to help in the clarification of the possible relation between 8q chromosomal mutation and the aetiology of TRP syndromes.<\/jats:p>","DOI":"10.1136\/jmg.22.4.314","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"314-316","source":"Crossref","is-referenced-by-count":13,"title":["Complex translocation in a boy with trichorhinophalangeal syndrome."],"prefix":"10.1136","volume":"22","author":[{"given":"L M","family":"S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"Labarta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T C","family":"De Negrotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Migliorini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,8,1]]},"reference":[{"key":"ref_1","first-page":"475","article-title":"Das Triclio-rhinlo-phIlaingcal snldr-omii. 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Blirti"},{"issue":"55-64","key":"ref_3","first-page":"\"13uhkcr\" # \"133: 163","article-title":"Jani I-Pila JUtIk L. C hromosomc clction aind milultipleciatilagillouscxostoscs. lFur.!","volume":"4","author":"lJ. Staldcr G, E.M.Biihlelr; f","year":"1969","unstructured":"I)( ft ( 1969:4:55-64. 13uhkcr EM Biihlelr lJ. Staldcr G,f. Jani I-Pila JUtIk L. C hromosomc clction aind milultipleciatilagillouscxostoscs. lFur.! Feciool t1398( 133:163-6.","journal-title":"Feciool"},{"key":"ref_4","first-page":"353","article-title":"Langer-Giedion syndrome with interstitial 8qdeletion","volume":"11","author":"WA, Zabel B.U.Baumann","year":"1982","unstructured":"Zabel BU. Baumann WA. Langer-Giedion syndrome with interstitial 8qdeletion. Antn J Med Getiet 1982;11:353-8.","journal-title":"Antn J Med Getiet"},{"issue":"38","key":"ref_5","first-page":"113","article-title":"G 1lochn 11. Smalll struicttUral chanoes of chrotilosomiie 8. Tso eases sith evidence ftor dclction","volume":"1977","author":"alilsoIn JW. tlIall J, Bciehlc C.Karp L.E.","unstructured":"Bciehlc C. Karp LE. alilsoIn JW. tlIall J.G 1lochn 11. Smalll struicttUral chanoes of chrotilosomiie 8. Tso eases sith evidence ftor dclction. Hoofitiii 1977:38:113-1.","journal-title":"Hoofitiii"},{"key":"ref_6","first-page":"13","article-title":"Mastroialcoso I' Ciandini E. Dclctioni of the lonig armil of chromilosomilc 8 i-csultting fromil a dc niovo trainslocationt","volume-title":"t( 4; I'l-CPrsumliptiv Clonig a-mildeltioln of chromnosomilc 8: a necss, syIndromec? Hliomi Genet 1979:,51: 49-53... Frvuns. IP Logghe N. Vai Egcin M. Vatiel eil3crh 1i. Iritcrstitial dilction ot the lonig air-m","volume":"8","author":"NM, Dallapiccola B.Santoro L.Trahace S.Ramenicigehi","year":"1977","unstructured":"Dallapiccola B. Santoro L.. Trahace S. Ramenicigehi NM. Mastroialcoso I' Ciandini E. Dclctioni of the lonig armil of chromilosomilc 8 i-csultting fromil a dc niovo trainslocationt t(4:8) (L( 13;q2 13). Hli Gcnlt 1977 38:12-I(). Tavssi K Noctzel M.1 Strauss AW. I'l-CPrsumliptiv Clonig a-mildeltioln of chromnosomilc 8: a necss, syIndromec? Hliomi Genet 1979:,51:49-53... Frvuns.IP Logghe N. Vai Egcin M. Vatiel eil3crh 1i. Iritcrstitial dilction ot the lonig air-m of chriom11osoImec 8. Karvotypc: 46 XY,dcl(8)(q2 1) HumtI Geniet 1979':48:127. Scitr.i 'hi M.A r-pid hanlidinig technlilufellCorhiclhrillill-OmiloSOImeCS."},{"key":"ref_7","first-page":"1","volume":"97","year":"1971","unstructured":"l anet 1971 ii:97 1-2."},{"issue":"11","key":"ref_8","first-page":"227","article-title":"Thcconiiiliility of huatilin mailftormail(.tion ss'ldromilcs thait shares ectodermal dysplasia and dcformitics of thc hands and feet","volume":"1975","author":"PinskvL","unstructured":"PinskvL. Thcconiiiliility of huatilin mailftormail(.tion ss'ldromilcs thait shares ectodermal dysplasia and dcformitics of thc hands and feet. Teratologv 1975,11:227-42.","journal-title":"Teratologv"},{"issue":"21","key":"ref_9","first-page":"30","article-title":"Ectodcrimlal dvsplasilas","volume":"1971","author":"Frcirc-Maia, N.","unstructured":"Frcirc-Maia N. Ectodcrimlal dvsplasilas. HumInmm H('red 1971:21:30)9l-","journal-title":"HumInmm H('red"},{"key":"ref_10","article-title":"Correspondence aind requests for reprints","volume-title":"Salta 661, 1074 Buenos Aires, Argentina. *Since this paper was submitted. Mr W L Whitehouse has dicd","author":"Sanchez, J.M.; de Genetica Humana, Fundaci6n","year":"1984","unstructured":"Correspondence aind requests for reprints to Dr J M Sanchez, Fundaci6n de Genetica Humana, Salta 661, 1074 Buenos Aires, Argentina. *Since this paper was submitted. Mr W L Whitehouse has dicd. Received for publication 30 August 1984. Accepted for publicatiotn 2 October 1984."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.4.314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:50:50Z","timestamp":1760730650000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.4.314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,8]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1985,8,1]]},"published-print":{"date-parts":[[1985,8]]}},"alternative-id":["10.1136\/jmg.22.4.314"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.4.314","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1985,8]]}}}