{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:36:29Z","timestamp":1790472989889,"version":"4.1.0"},"reference-count":79,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,10,10]],"date-time":"2016-10-10T00:00:00Z","timestamp":1476057600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Federal Ministry of Education and Research (Bundesministerium f\u00fcr Bildung und Forschung, BMBF)","award":["01GM08107"],"award-info":[{"award-number":["01GM08107"]}]},{"name":"BONFOR program of the University of Bonn","award":["O-149.0096"],"award-info":[{"award-number":["O-149.0096"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well\u2010described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure <jats:italic>de novo<\/jats:italic> duplication 3q26.32\u2010q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic> gene were found to be causative in CS but no <jats:italic><jats:styled-content style=\"fixed-case\">MNX1<\/jats:styled-content><\/jats:italic> mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3\u2010q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the <jats:italic><jats:styled-content style=\"fixed-case\">TBL1XR1<\/jats:styled-content><\/jats:italic> gene on 3q26.32.<\/jats:p>","DOI":"10.1111\/cge.12848","type":"journal-article","created":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T08:42:46Z","timestamp":1471941766000},"page":"661-671","source":"Crossref","is-referenced-by-count":28,"title":["Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and <i>de novo<\/i> duplication 3q26.32\u2010q27.2"],"prefix":"10.1111","volume":"91","author":[{"given":"G.C.","family":"Dworschak","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn  Bonn Germany"},{"name":"Department of Pediatrics, Children's Hospital 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der Stadt K\u00f6ln GmbH  Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Reutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn  Bonn Germany"},{"name":"Department of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Clinical Pharmacology University of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1542\/peds.37.1.92","article-title":"Familial de Lange syndrome with chromosome abnormalities","volume":"37","author":"Falek 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