{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:48:44Z","timestamp":1792284524006,"version":"4.4.0"},"reference-count":27,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"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":[[2011]]},"abstract":"We describe a patient with a rare interstitial deletion of chromosome 7p21.1\u2013p14.3 detected by array-CGH. The deletion encompassed 74 genes and caused haploinsufficiency (or loss of allele) of 6 genes known to be implicated in different autosomal dominant genetic disorders:<i> TWIST, DFNA5, CYCS, HOXA11, HOXA13, <\/i>and <i>GARS<\/i>. The patient had several morphological abnormalities similar to Saethre-Chotzen syndrome (caused by <i>TWIST <\/i>mutations) including craniosynostosis of the coronal suture and anomalies similar to those seen in hand-foot-uterus syndrome (caused by <i>HOXA13<\/i> mutations) including hypospadias. The combined phenotype of Saethre-Chotzen syndrome and hand-foot-uterus syndrome of our patient closely resembles a previously reported case with a cytogenetically visible small deletion spanning 7p21\u2013p14.3. We therefore conclude that microdeletions of 7p spanning the<i> TWIST<\/i> gene and <i>HOXA<\/i> gene cluster lead to a clinically recognizable \u2018haploinsufficiency syndrome\u2019.<\/jats:p>","DOI":"10.1159\/000334313","type":"journal-article","created":{"date-parts":[[2011,11,14]],"date-time":"2011-11-14T07:54:11Z","timestamp":1321257251000},"page":"45-49","source":"Crossref","is-referenced-by-count":20,"title":["Severe Developmental Delay in a Patient with 7p21.1\u2013p14.3 Microdeletion Spanning the <i>TWIST<\/i> Gene and the <i>HOXA<\/i> Gene Cluster"],"prefix":"10.1159","volume":"2","author":[{"given":"H.","family":"Fryssira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Makrythanasis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kattamis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Stokidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Menten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Kanavakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2011,11,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1086%2F375039"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819991008%2986%3A4%3C305%3A%3AAID-AJMG1%3E3.0.CO%3B2-B"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2007.00889.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320510320"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10368"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2FS0888-7543%2803%2900046-6"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2F375791a0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086%2F302452"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.38.7.470"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-004-1174-y"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.40.4.e49"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10776"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1086%2F302961"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.10046"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0197-36"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.9036"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1086%2F302122"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1741-4520.2005.00059.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.12.2049"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186%2F1471-2105-6-124"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.103"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038%2F82511"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2141.2001.02834.x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038%2F2503"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2003.015073"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1086%2F302125"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gde.2007.05.011"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334313","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:46:39Z","timestamp":1745433999000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000334313"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2011,12,1]]},"published-print":{"date-parts":[[2011,12,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000334313","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}