{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T15:37:22Z","timestamp":1778254642415,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T00:00:00Z","timestamp":1506038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007047","name":"Norway Grants","doi-asserted-by":"publisher","award":["NF\u2010CZ11\u2010PDP\u20103\u2010003\u20102014"],"award-info":[{"award-number":["NF\u2010CZ11\u2010PDP\u20103\u2010003\u20102014"]}],"id":[{"id":"10.13039\/501100007047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The 17q12 chromosomal region carries the <jats:italic>HNF1B<\/jats:italic> gene, mutations of which cause various conditions. When searching for <jats:italic>HNF1B\/<\/jats:italic>17q12 rearrangements among children with biliary atresia and\/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698\u2009kb that included 24 genes from <jats:italic>TBC1D3C<\/jats:italic> to <jats:italic>HNF1B<\/jats:italic>. The boy presented with cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 \u00d712 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux\u2010en\u2010Y loop at the age of 2 months, which led to a permanent relief of cholestasis. Perioperative liver histology revealed significant hepatic fibrosis and bile ductular proliferation. At 17 years, he has a mildly enlarged liver with decreased elasticity, an upper\u2010normal\u2013sized spleen, normal biochemistry values, and no renal or hepatic cysts. We report the first hepatobiliary phenotype in a patient with an <jats:italic>HNF1B<\/jats:italic> overdosage.<\/jats:p>","DOI":"10.1111\/ahg.12221","type":"journal-article","created":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T10:06:54Z","timestamp":1506074814000},"page":"48-51","source":"Crossref","is-referenced-by-count":7,"title":["Choledochal Cyst with 17q12 Chromosomal Duplication"],"prefix":"10.1111","volume":"82","author":[{"given":"Radana","family":"Kotalova","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8647-9088","authenticated-orcid":false,"given":"Petra","family":"Dusatkova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Drabova","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lenka","family":"Elblova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas","family":"Dedic","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ondrej","family":"Cinek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lebl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stepanka","family":"Pruhova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Second Faculty of Medicine Charles University in Prague and University Hospital Motol  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.010"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.114215"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v21.i8.2550"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.174"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9610(77)90359-2"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12221","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12221","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12221","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12221","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T17:36:49Z","timestamp":1693417009000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,22]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/ahg.12221"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12221","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,22]]}}}