{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T11:11:33Z","timestamp":1698318693294},"reference-count":12,"publisher":"Akademiai Kiado Zrt.","issue":"12","license":[{"start":{"date-parts":[[2022,3,20]],"date-time":"2022-03-20T00:00:00Z","timestamp":1647734400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,3,20]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold> A 3p25-deleti\u00f3s szindr\u00f3ma nagyon ritka genetikai\n                    rendelleness\u00e9g, a nemzetk\u00f6zi szakirodalom jelenleg kevesebb mint 60 esetet \u00edr\n                    le. A k\u00f3rk\u00e9pre \u00e1ltal\u00e1nosan jellemz\u0151 a n\u00f6veked\u00e9si \u00e9s pszichomotoros\n                    visszamaradotts\u00e1g, a microcephalia, a hypotonia, a velesz\u00fcletett sz\u00edvfejl\u0151d\u00e9si\n                    rendelleness\u00e9g, a ptosis \u00e9s micrognathia, de nagyon ritk\u00e1n el\u0151fordul klinikai\n                    t\u00fcnetek n\u00e9lk\u00fcli megjelen\u00e9se is. \u00c1ltal\u00e1ban \u00fajonnan kialakult rendelleness\u00e9g, b\u00e1r\n                    egyes esetekben el\u0151fordulhat famili\u00e1ris form\u00e1ja. A kromoszom\u00e1lis t\u00f6r\u00e9spont\n                    v\u00e1ltoz\u00f3 helyen fordul el\u0151. K\u00f6zlem\u00e9ny\u00fcnkben egy 3p25-deleti\u00f3s szindr\u00f3m\u00e1val\n                    sz\u00fcletett gyermek eset\u00e9t mutatjuk be: a deleti\u00f3t kariotipiz\u00e1l\u00e1ssal \u00e9s\n                    fluoreszcens <jats:italic>in situ<\/jats:italic> hibridiz\u00e1ci\u00f3val igazoltuk, majd\n                    microarray-komparat\u00edv genomhibridiz\u00e1l\u00e1ssal meghat\u00e1roztuk a pontos t\u00f6r\u00e9spontot \u00e9s\n                    a hi\u00e1nyz\u00f3 g\u00e9neket. Az \u00e9rintett r\u00e9gi\u00f3ban 43 OMIM-g\u00e9nt tal\u00e1ltunk, melyek szerepet\n                    j\u00e1tszanak a megk\u00e9sett pszichomotoros \u00e9s n\u00f6veked\u00e9si elmarad\u00e1sban, valamint az\n                    intellektu\u00e1lis zavarban. A genetikai h\u00e1tt\u00e9r pontos karakteriz\u00e1l\u00e1sa hozz\u00e1seg\u00edt a\n                    v\u00e1rhat\u00f3 t\u00fcnetek \u00e9s a progn\u00f3zis meghat\u00e1roz\u00e1s\u00e1hoz, egyben t\u00e1mpontot biztos\u00edthat a\n                    j\u00f6v\u0151beli ter\u00e1pia tervez\u00e9s\u00e9hez \u00e9s a szem\u00e9lyre szabott fejleszt\u00e9s kivitelez\u00e9s\u00e9hez.\n                    Orv Hetil. 2022; 163(12): 478\u2013483.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold> The 3p25 deletion syndrome is a very rare genetic\n                    abnormality, characterized by growth and psychomotor retardation, microcephaly,\n                    hypotonia, congenital heart defects, ptosis and micrognathia. Less than 60 cases\n                    have been published in the literature so far. However, a few patients with\n                    normal or mild phenotype have also been described. The majority of the cases are\n                        <jats:italic>de novo<\/jats:italic> mutations, with variable chromosomal breakpoints.\n                    We present the case of a newborn infant with 3p25 deletion syndrome, whose\n                    genetic analysis was done by karyotyping, fluorescent <jats:italic>in situ<\/jats:italic>\n                    hybridization and array comparative genomic hybridization. The latter method\n                    enabled us to define the precise breakpoint and the genes involved in the\n                    deletion, thus we could provide information for further clinical management. We\n                    identified 43 OMIM genes in the deleted region, which may have a causative\n                    effect on the pscychomotor and developmental delay and also on the intellectual\n                    disability. Exact cytogenomic characterisation of a rare genetic syndrome may\n                    allow to employ personalised treatment. Orv Hetil. 2022; 163(12): 478\u2013483.<\/jats:p>","DOI":"10.1556\/650.2022.32389","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T10:17:49Z","timestamp":1668766669000},"page":"478-483","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["De novo 3p25-deleti\u00f3s szindr\u00f3ma genot\u00edpus-fenot\u00edpus vizsg\u00e1lata"],"prefix":"10.1556","volume":"163","author":[{"given":"Edina","family":"Sarkadi","sequence":"first","affiliation":[{"name":"Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Klinikai Genetikai R\u00e9szleg Budapest, Podmaniczky utca 111., 1062 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"P. Tardy","sequence":"additional","affiliation":[{"name":"Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Klinikai Genetikai R\u00e9szleg Budapest, Podmaniczky utca 111., 1062 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henriett","family":"Pik\u00f3","sequence":"additional","affiliation":[{"name":"Pentacore Laborat\u00f3riumok \u00e9s Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, I. Belgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsolt","family":"Tidrenczel","sequence":"additional","affiliation":[{"name":"Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, Sz\u00fcl\u00e9szet-N\u0151gy\u00f3gy\u00e1szat Oszt\u00e1ly, Genetikai Centrum Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ildik\u00f3","family":"B\u00f6jt\u00f6s","sequence":"additional","affiliation":[{"name":"Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Klinikai Genetikai R\u00e9szleg Budapest, Podmaniczky utca 111., 1062 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e1nos","family":"K\u00f3sa","sequence":"additional","affiliation":[{"name":"Pentacore Laborat\u00f3riumok \u00e9s Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, I. Belgy\u00f3gy\u00e1szati Klinika Budapest Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Simon","sequence":"additional","affiliation":[{"name":"Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Klinikai Genetikai R\u00e9szleg Budapest, Podmaniczky utca 111., 1062 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","doi-asserted-by":"publisher","first-page":"618059","DOI":"10.3389\/fped.2021.618059","article-title":"Case report: A case report and literature review of 3p deletion syndrome","volume":"9","author":"1 Fu","year":"2021","unstructured":"1 Fu J, Wang T, Fu Z, et al. Case report: A case report and literature review of 3p deletion syndrome. 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Javaslat a hazai bevezet\u00e9sre.] Orv Hetil. 2019; 160: 484-493.","DOI":"10.1556\/650.2019.31322"}],"container-title":["Orvosi Hetilap"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/163\/12\/article-p478.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/downloadpdf\/journals\/650\/163\/12\/article-p478.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/akjournals.com\/downloadpdf\/journals\/650\/163\/12\/article-p478.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T14:15:52Z","timestamp":1698243352000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/163\/12\/article-p478.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,20]]},"references-count":12,"journal-issue":{"issue":"12"},"URL":"https:\/\/doi.org\/10.1556\/650.2022.32389","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,20]]}}}