{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T22:21:54Z","timestamp":1649110914218},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"47","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p> Abstract: <\/jats:p><jats:p> Whole or partial trisomy of the short arm of chromosome 9 (9p) is considered to be one of the more frequent chromosome abnormalities compatible with life. The duplication may affect various organs, however the most common symptoms are certain specific facial dysmorphisms and abnormalities of the fingers, toes and nails. A one month old boy presented with failure to thrive, jaundice, ventricular septal defect (VSD) and dysmorphic face. He displayed symptoms of heart failure. The cardiologic examination revealed a significant VSD, hypoplasia of the aortic arch, pulmonary hypertension, decompensated circulatory failure and moderate left ventricle dysfunction. Routine cytogenetic analysis revealed a supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) identified this as the short arm of chromosome 9. The child\u2019s karyotype was determined as 47,XY,+der(9)dup(9)(p10p24)dn. Due to his worsening condition and the high risk of the operation, it was decided to forego the procedure. After a short palliative care the child passed away. The child\u2019s clinical presentation and the uncharacteristic severity of his condition show that chromosome abnormalities involving duplicated genetic material are extremely heterogeneous. Thus treatment of each child should be individualized and may also involve difficult ethical considerations. Orv Hetil. 2018; 159(47): 1994\u20132000. <\/jats:p>","DOI":"10.1556\/650.2018.31223","type":"journal-article","created":{"date-parts":[[2018,11,25]],"date-time":"2018-11-25T06:59:05Z","timestamp":1543129145000},"page":"1994-2000","source":"Crossref","is-referenced-by-count":0,"title":["9p trisz\u00f3mia \u00e9s a klinikai soksz\u00edn\u0171s\u00e9g: egy v\u00e1ratlan                     megjelen\u00e9s\u0171 eset ismertet\u00e9se"],"prefix":"10.1556","volume":"159","author":[{"given":"Anna","family":"Lengyel","sequence":"first","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Genetikai R\u00e9szleg,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Pf. 2., 1428"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kosik","sequence":"additional","affiliation":[{"name":"I. Gyermekgy\u00f3gy\u00e1szati Klinika, Intenz\u00edv Ter\u00e1pi\u00e1s                     Oszt\u00e1ly, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Pinti","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Genetikai R\u00e9szleg,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Pf. 2., 1428"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Csaba","family":"L\u00f3di","sequence":"additional","affiliation":[{"name":"I. Gyermekgy\u00f3gy\u00e1szati Klinika, Intenz\u00edv Ter\u00e1pi\u00e1s                     Oszt\u00e1ly, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[{"name":"I. Gyermekgy\u00f3gy\u00e1szati Klinika, MTA\u2013SE Lend\u00fclet                     Nephrogenetikai Kutat\u00f3csoport, Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Genetikai R\u00e9szleg,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Pf. 2., 1428"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ir\u00e9n","family":"Haltrich","sequence":"additional","affiliation":[{"name":"II. Gyermekgy\u00f3gy\u00e1szati Klinika, Genetikai R\u00e9szleg,                         Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Budapest, Pf. 2., 1428"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/650.2018.31223","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T19:58:42Z","timestamp":1550606322000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akademiai.com\/doi\/10.1556\/650.2018.31223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":0,"journal-issue":{"issue":"47","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1556\/650.2018.31223"],"URL":"https:\/\/doi.org\/10.1556\/650.2018.31223","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11]]}}}