{"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":1761718076144,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,3]]},"abstract":"<jats:p>We report two de novo cases of del(8)(pter----q24.1:) with breakpoints involving the distal part of band 8q24.1. The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome (LGS). There are three other cases reported with a deletion of chromosome 8 at approximately the same breakpoint, one without LGS and some similarities to our cases, the other two with LGS. Our findings would support the observation that the critical segment for the assignment of LGS is proximal to or involves the proximal part of 8q24.1, but a review of published reports suggests that the aetiology of LGS may be a more complex issue.<\/jats:p>","DOI":"10.1136\/jmg.26.3.167","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"167-171","source":"Crossref","is-referenced-by-count":13,"title":["Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome."],"prefix":"10.1136","volume":"26","author":[{"given":"S J","family":"Fennell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"Benson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A D","family":"Kindley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Schwarz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Czepulkowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/BF00295814","article-title":"Small structural changes of chromosome 8. Two cases with evidence for deletion","volume":"38","author":"Beighle, C.; Karp, L.E.; Hanson, J.W.; Hall, J.G.; Hoehn, H.","year":"1977","unstructured":"Beighle C, Karp LE, Hanson JW, Hall JG, Hoehn H. Small structural changes of chromosome 8. Two cases with evidence for deletion. Hum Genet 1977;38:113-21.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/BF00441586","article-title":"Chromosome deletion and multiple cartilaginous exostoses","volume":"133","author":"Buhler, E.M.; Buhler, U.K.; Stalder, G.R.; Jani, L.; Jurik, L.P.","year":"1980","unstructured":"Buhler EM, Buhler UK, Stalder GR, Jani L, Jurik LP. Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 1980;133:163-6.","journal-title":"Eur J Pediatr"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/BF00333515","article-title":"Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23","volume":"62","author":"Turleau, C.; Chavin-Colin, F.; de Grouchy, J.; Maroteaux, P.; Rivera, H.","year":"1982","unstructured":"Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H. Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23. Hum Genet 1982;62:183-7.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1007\/BF00327126","article-title":"LangerGiedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23","volume":"64","author":"Fryns, J.P.; Heremans, G.; Marien, J.; Van den Berghe, H.","year":"1983","unstructured":"Fryns JP, Heremans G, Marien J, Van den Berghe H. LangerGiedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. Hum Genet 1983;64:194-5.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"163","article-title":"Terminal or interstitial deletion","volume-title":"chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Hum Genet 1983; 64","author":"Buhler, E.M.; Buhler, U.K.; Christen, R.","unstructured":"Buhler EM, Buhler UK, Christen R. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Hum Genet 1983;64:163-6."},{"key":"ref_6","first-page":"\"375","article-title":"Deletion of the long arm of chromosome 8-a recognisable syndrome? Pediatr Pathol","volume":"12","author":"Fennell, S.J.; Schwartz, M.J.; Higgins, G.S.; Czepulkowski, B.; Benson, J.W.T.; Kindley, A.D.","year":"1984","unstructured":"Fennell SJ, Schwartz MJ, Higgins GS, Czepulkowski B, Benson JWT, Kindley AD. Deletion of the long arm of chromosome 8-a recognisable syndrome? Pediatr Pathol 1984;12:375-6A. 7Buhler EM, Malik NJ. The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? Am J Med Genet 1984;19:113-9.","journal-title":"Am J Med Genet; The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities"},{"key":"ref_7","first-page":"224","article-title":"The critical segment for the Langer-Giedion syndrome: 8q24.11-q24.12","volume":"4","author":"Bowen, P.; Biederman, B.; Hoo, J.J.","year":"1985","unstructured":"Bowen P, Biederman B, Hoo JJ. The critical segment for the Langer-Giedion syndrome: 8q24.11-q24.12. Ann Genet (Paris) 1985;4:224-7."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1399-0004.1985.tb00207.x","article-title":"A complex rearrangement, including a deleted 8q, in a case of LangerGiedion syndrome","volume":"27","author":"Schwartz, S.; Beisel, J.H.; Panny, SR, Cohen; M.M.","year":"1985","unstructured":"Schwartz S, Beisel JH, Panny SR, Cohen MM. A complex rearrangement, including a deleted 8q, in a case of LangerGiedion syndrome. Clin Genet 1985;27:175-82.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1007\/BF00282091","article-title":"8q24.12 interstitial deletion in trichorhinophalangeal syndrome type","volume":"74","author":"Fryns, J.P.; Van den Berghe, H.","year":"1986","unstructured":"Fryns JP, Van den Berghe H. 8q24.12 interstitial deletion in trichorhinophalangeal syndrome type I. Hum Genet 1986;74: 188-9.","journal-title":"I. Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/j.1399-0004.1987.tb02806.x","article-title":"A final word on the tricho-rhino-phalangeal syndromes","volume":"31","author":"Buhler, E.M.; Buhler, U.K.; C, Beutler; Fessler, R.","year":"1987","unstructured":"Buhler EM, Buhler UK, Beutler.C, Fessler R. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet 1987; 31:273-5.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.3.167","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:55:29Z","timestamp":1760774129000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.3.167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1989,3,1]]},"published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1136\/jmg.26.3.167"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.3.167","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}