{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:42:02Z","timestamp":1788871322346,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T00:00:00Z","timestamp":1411344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001826","name":"Netherlands Organization for Health Research and Development","doi-asserted-by":"crossref","award":["ZonMw 90700365"],"award-info":[{"award-number":["ZonMw 90700365"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>Microdeletions of the 5q11.2 region are rare; in literature only two patients with a deletion in this region have been reported so far. In this study, we describe four additional patients and further define this new 5q11.2 microdeletion syndrome. A comparison of the features observed in all six patients with overlapping 5q11.2 deletions showed a phenotypic spectrum that overlaps with CHARGE syndrome and 22q11.2 deletion syndrome including choanal atresia, developmental delay, heart defects, external ear abnormalities, and short stature. No colobomas or abnormalities of semicircular canals and olfactory nerves were reported. Two male patients had genital abnormalities. We estimated a 2.0\u2009Mb (53.0\u201355.0\u2009Mb) Shortest Region of Overlap (SRO) for the main clinical characteristics of the syndrome. This region contains nine genes and two non\u2010coding microRNAs. In this region DHX29 serves as the candidate gene as it encodes an ATP\u2010dependent RNA\u2010helicase that is involved in the initiation of RNA translation. Screening a small cohort of 14 patients who presented the main features, however, did not reveal any pathogenic abnormalities of DHX29. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36680","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T16:54:01Z","timestamp":1411404841000},"page":"2843-2848","source":"Crossref","is-referenced-by-count":8,"title":["Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes"],"prefix":"10.1002","volume":"164","author":[{"given":"Charlotte","family":"Snijders Blok","sequence":"first","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Corsten\u2010Janssen","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"FitzPatrick","sequence":"additional","affiliation":[{"name":"MRC Human Genetics Unit, MRC IGMM University of Edinburgh Edinburgh United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[{"name":"I.R.C.C.S. Associazione Oasi Maria Santissima Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[{"name":"I.R.C.C.S. Associazione Oasi Maria Santissima Troina Italy"},{"name":"Medical Genetics University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Girolamo Aurelio","family":"Vitello","sequence":"additional","affiliation":[{"name":"I.R.C.C.S. Associazione Oasi Maria Santissima Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein H.","family":"Willemsen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Schoots","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M.A.","family":"van Ravenswaaij\u2010Arts","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies","family":"Hoefsloot","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2005.01.010"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.015"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000351127","article-title":"More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated","volume":"4","author":"Corsten\u2010Janssen N","year":"2013","journal-title":"Mol Syndromol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.84"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3400"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/505693"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2013.01.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0909773106"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.10.037"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1195-6"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318194ee8f"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201778"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.086983.108"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001023"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1126"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0513-9"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq265"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/515583"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36680","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T11:48:59Z","timestamp":1700653739000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,22]]},"references-count":21,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1002\/ajmg.a.36680"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36680","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,22]]}}}