{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:33:25Z","timestamp":1745469205117,"version":"3.40.4"},"reference-count":23,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal content into the thoracic cavity through an abnormal opening in the diaphragm present at birth. It is a common birth defect with high mortality and morbidity. Submicroscopic deletions of 15q26.1 and 8p23.1 have been reported in several cases of CDH. We studied a total of 17 cases with CDH in pre- and postnatal samples using FISH probes. Deletion 15q26.1 was seen in 1\/17 prenatal samples. There was no deletion for 8p23.1 in all the samples analyzed. CDH has a genetic etiology, and deletion 15q26.1 increases the risk of CDH. Deletion 15q26.1 in a fetus with CDH is a predictor of poor prognosis. This deletion is also seen in a phenotype similar to Fryns syndrome. CDH identified pre- or postnatally should be investigated further to exclude a 15q26.1 deletion and enable appropriate parental counseling.<\/jats:p>","DOI":"10.1159\/000442506","type":"journal-article","created":{"date-parts":[[2015,12,16]],"date-time":"2015-12-16T22:15:04Z","timestamp":1450304104000},"page":"248-253","source":"Crossref","is-referenced-by-count":1,"title":["Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia"],"prefix":"10.1159","volume":"6","author":[{"given":"Mitesh","family":"Shetty","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayarama","family":"Kadandale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sridevi","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,12,17]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1002\/pd.4244"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1155\/2014\/495702"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1002\/ajmg.1320290119"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1542\/peds.2004-2845"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1055\/s-0031-1284358"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1001\/jama.271.5.382"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1002\/pd.1707"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1159\/000080164"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1086\/513442"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.3109\/10520296509116440"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.1002\/ajmg.a.35995"},{"doi-asserted-by":"publisher","key":"ref12","DOI":"10.1086\/429842"},{"doi-asserted-by":"publisher","key":"ref13","DOI":"10.1002\/ajmg.a.31892"},{"doi-asserted-by":"publisher","key":"ref14","DOI":"10.1073\/pnas.1412509111"},{"doi-asserted-by":"publisher","key":"ref15","DOI":"10.1073\/pnas.85.23.9138"},{"doi-asserted-by":"publisher","key":"ref16","DOI":"10.1111\/j.1399-0004.2008.01031.x"},{"doi-asserted-by":"publisher","key":"ref17","DOI":"10.1073\/pnas.89.4.1388"},{"doi-asserted-by":"publisher","key":"ref18","DOI":"10.1002\/pd.50"},{"doi-asserted-by":"publisher","key":"ref19","DOI":"10.1016\/S0140-6736(71)90287-X"},{"doi-asserted-by":"publisher","key":"ref20","DOI":"10.1002\/ajmg.a.30778"},{"doi-asserted-by":"publisher","key":"ref21","DOI":"10.1136\/jmg.2004.028787"},{"doi-asserted-by":"publisher","key":"ref22","DOI":"10.1002\/ajmg.a.32896"},{"doi-asserted-by":"publisher","key":"ref23","DOI":"10.1136\/jmedgenet-2013-101989"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442506","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442506","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/442506","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:09:28Z","timestamp":1745431768000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000442506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,2,1]]},"published-print":{"date-parts":[[2016,2,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000442506","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2015]]}}}