{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T22:35:28Z","timestamp":1758926128752,"version":"3.44.0"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Dis Child Fetal Neonatal Ed"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:p>The case is reported of a baby boy with an interstitial deletion of the long arm of chromosome 13 who, in addition to the described associations of Hirschsprung's disease and intestinal atresia, had umbilical cord ulceration resulting in massive intrapartum haemorrhage. This case provides support for the existence of a previously reported association between umbilical cord ulceration and intestinal atresia, and suggests that it is aetiologically heterogeneous.<\/jats:p>","DOI":"10.1136\/fn.71.3.f212","type":"journal-article","created":{"date-parts":[[2008,10,31]],"date-time":"2008-10-31T17:55:51Z","timestamp":1225475751000},"page":"F212-F213","source":"Crossref","is-referenced-by-count":33,"title":["Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease."],"prefix":"10.1136","volume":"71","author":[{"given":"T Y","family":"Khong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W D","family":"Ford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E A","family":"Haan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/S0002-9378(11)80026-8","article-title":"Umbilical cord ulceration and intestinal atresia: A new association?","volume":"164","author":"Bendon, R.W.; Tyson, R.W.; Baldwin, V.J.; Cashner, K.A.; Mimouni, F.; Miodovnik, M.","year":"1991","unstructured":"Bendon RW, Tyson RW, Baldwin VJ, Cashner KA, Mimouni F, Miodovnik M. 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J Pediatr Surg 1968; 3: 386-91.","journal-title":"J Pediatr Surg"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1007\/BF00418397","article-title":"Separation ofretinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del (13)(ql4.1q22.3)","volume":"68","author":"Sparkes, R.S.; Sparkes, M.C.; Kalina, R.E.; Pagon, R.A.; Salk, D.J.; Disteche, C.M.","year":"1984","unstructured":"Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM. Separation ofretinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del (13)(ql4.1q22.3). Hum Genet 1984; 68: 258-91.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1136\/jmg.26.2.100","article-title":"Intestinal deletion of distal 13q associated with Hirschsprung's disease","volume":"26","author":"Lamont, M.A.; Fitchett, M.; Dennis, N.R.","year":"1989","unstructured":"Lamont MA, Fitchett M, Dennis NR. Intestinal deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 1989; 26: 100-4.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1136\/jmg.26.12.793","article-title":"Association of 13q deletion and Hirschsprung's disease","volume":"26","author":"Kiss, P.; Osztovics, M.","year":"1989","unstructured":"Kiss P, Osztovics M. Association of 13q deletion and Hirschsprung's disease. JMed Genet 1989; 26: 793-6.","journal-title":"JMed Genet"},{"key":"ref_6","first-page":"748","article-title":"A case of Hirschsprung disease with a chromosome 13 microdeletion","volume":"87","author":"Bottani, A.; Xie, Y.; Binkert, F.; Schinzel, A.","year":"1991","unstructured":"Bottani A, Xie Y, Binkert F, Schinzel A. A case of Hirschsprung disease with a chromosome 13 microdeletion, del (13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet 1991; 87: 748-50.","journal-title":"Hum Genet; potential mapping of one disease locus"}],"container-title":["Archives of Disease in Childhood - Fetal and Neonatal Edition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/fn.71.3.F212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T08:44:03Z","timestamp":1757061843000},"score":1,"resource":{"primary":{"URL":"https:\/\/fn.bmj.com\/lookup\/doi\/10.1136\/fn.71.3.F212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,11]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1994,11,1]]},"published-print":{"date-parts":[[1994,11]]}},"alternative-id":["10.1136\/fn.71.3.F212"],"URL":"https:\/\/doi.org\/10.1136\/fn.71.3.f212","relation":{},"ISSN":["1359-2998","1468-2052"],"issn-type":[{"type":"print","value":"1359-2998"},{"type":"electronic","value":"1468-2052"}],"subject":[],"published":{"date-parts":[[1994,11]]}}}