{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T21:05:13Z","timestamp":1762808713512,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as \u201ca novel genetic disorder.\u201d Various genetic tests, including a BAC-based array-CGH analysis, were reported as normal. Recently, a SNP-based microarray analysis was performed and showed an 11.1-Mb deletion from 6q25.2 to 6q26, including &lt;i&gt;ARID1B &lt;\/i&gt;and&lt;i&gt; ZDHHC14&lt;\/i&gt;. Recent literature suggests that the 6q25 deletion syndrome is a recognizable entity characterized by growth delay, developmental disabilities, microcephaly, hearing loss, and variable other malformations including cleft palate. These features overlap with those of Coffin-Siris syndrome, which is caused by deletions and loss-of-function mutations of &lt;i&gt;ARID1B&lt;\/i&gt;. Retrospectively, this patient has features resembling both Coffin-Siris and 6q25 microdeletion syndromes.<\/jats:p>","DOI":"10.1159\/000494871","type":"journal-article","created":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T22:02:35Z","timestamp":1542319355000},"page":"191-196","source":"Crossref","is-referenced-by-count":4,"title":["Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey"],"prefix":"10.1159","volume":"156","author":[{"given":"Prabakaran","family":"Paulraj","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice C.","family":"Palumbos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Openshaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reha M.","family":"Toydemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,11,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.154"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00424.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35361"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.220"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37553"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-43"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37945"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33699"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-015-1898-1"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/494871","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/494871","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:09:05Z","timestamp":1745428145000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000494871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,1,25]]},"published-print":{"date-parts":[[2019,1,31]]}},"URL":"https:\/\/doi.org\/10.1159\/000494871","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2018]]}}}