{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:46:39Z","timestamp":1777553199502,"version":"3.51.4"},"reference-count":48,"publisher":"Akademiai Kiado Zrt.","issue":"1","license":[{"start":{"date-parts":[[2022,1,2]],"date-time":"2022-01-02T00:00:00Z","timestamp":1641081600000},"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":[[2022,1,2]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold>\n                    <jats:italic>Bevezet\u00e9s:<\/jats:italic> A soksz\u00edn\u0171 t\u00fcnetspektrummal jellemezhet\u0151\n                    DiGeorge-szindr\u00f3ma leggyakoribb oka a 22q11.2-microdeletio; incidenci\u00e1ja\n                    1\/4000\u20136000. <jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic> A DiGeorge-szindr\u00f3m\u00e1ra gyan\u00fas hazai\n                    betegcsoport 22q11.2-microdeleti\u00f3val t\u00e1rsult t\u00fcneteinek\/panaszainak r\u00e9szletes\n                    felt\u00e9rk\u00e9pez\u00e9se, a betegs\u00e9g incidenci\u00e1j\u00e1nak becsl\u00e9se \u00e9s egy magyarorsz\u00e1gi\n                    22q11.2-microdeleti\u00f3s szindr\u00f3ma regiszter l\u00e9trehoz\u00e1sa. <jats:italic>M\u00f3dszer:<\/jats:italic>\n                    2005 \u00e9s 2019 k\u00f6z\u00f6tt a Semmelweis Egyetem II. Gyermekgy\u00f3gy\u00e1szati Klinik\u00e1j\u00e1ra\n                    DiGeorge-szindr\u00f3ma gyan\u00faj\u00e1val beutalt \u00e9s a Velesz\u00fcletett Rendelleness\u00e9gek\n                    Orsz\u00e1gos Nyilv\u00e1ntart\u00e1sa \u00e1ltal regisztr\u00e1lt DiGeorge-szindr\u00f3m\u00e1s betegek adatait\n                    dolgoztuk fel. A fenot\u00edpusjegyeket a Hum\u00e1n Fenot\u00edpus Ontol\u00f3gia k\u00f3drendszer\n                    alapj\u00e1n hat\u00e1roztuk meg. <jats:italic>Eredm\u00e9nyek:<\/jats:italic> A vizsg\u00e1latba 114, igazolt\n                    DiGeorge-szindr\u00f3m\u00e1s \u00e9s 113, FISH-vizsg\u00e1lattal microdeleti\u00f3t nem hordoz\u00f3, de\n                    klinikailag a DiGeorge-szindr\u00f3ma t\u00fcneteit mutat\u00f3 beteget vontunk be. A diagn\u00f3zis\n                    fel\u00e1ll\u00edt\u00e1sakor a betegek \u00e1tlag\u00e9letkora 5,88 (\u00b1 9,66 SD) \u00e9v volt, eddig a betegek\n                    54,9%-a legal\u00e1bb egy sz\u00edvm\u0171t\u00e9ten \u00e1tesett. A betegek leggyakoribb t\u00fcnetei a\n                    kamrai s\u00f6v\u00e9nyhi\u00e1ny, a m\u00e9lyen \u00fcl\u0151 f\u00fclek, a g\u00f3tikus sz\u00e1jpad, a motoros fejl\u0151d\u00e9si\n                    elmarad\u00e1s \u00e9s a visszat\u00e9r\u0151 fert\u0151z\u00e9sek voltak. <jats:italic>Megbesz\u00e9l\u00e9s:<\/jats:italic> A\n                    DiGeorge-szindr\u00f3ma becs\u00fclt incidenci\u00e1ja haz\u00e1nkban 1\/12 500, k\u00f6z\u00f6tt\u00fck magas a\n                    t\u00f6bbsz\u00f6r\u00f6sen vesz\u00e9lyeztetett \u00fajsz\u00fcl\u00f6ttek \u00e9s a m\u0171t\u00e9ti korrekci\u00f3ra szorul\u00f3k\n                    ar\u00e1nya. A diagn\u00f3zis haz\u00e1nkban 2\u20133 \u00e9vvel kor\u00e1bban t\u00f6rt\u00e9nik a nemzetk\u00f6zi \u00e1tlaghoz\n                    viszony\u00edtva. <jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic> A l\u00e9trehozott regiszter\u00fcnk alapj\u00e1n\n                    Magyarorsz\u00e1gon a k\u00f3rk\u00e9p aluldiagnosztiz\u00e1lt. Minden conotruncalis sz\u00edvfejl\u0151d\u00e9si\n                    rendelleness\u00e9g vagy jelent\u0151s kamrai s\u00f6v\u00e9nyhi\u00e1ny eset\u00e9n citogenetikai vizsg\u00e1lat\n                    javasolt a DiGeorge-szindr\u00f3ma felmer\u00fcl\u0151 gyan\u00faja miatt. Negat\u00edv lelet eset\u00e9n az\n                    at\u00edpusos t\u00f6r\u00e9spont\u00fa microdeleti\u00f3k azonos\u00edt\u00e1s\u00e1ra komparat\u00edv genomi\u00e1lis\n                    hibridiz\u00e1ci\u00f3 vagy multiplex ligatiof\u00fcgg\u0151 pr\u00f3baamplifik\u00e1ci\u00f3s vizsg\u00e1lat javasolt.\n                    A betegek sz\u00e1m\u00e1ra multidiszciplin\u00e1ris ell\u00e1t\u00e1s sz\u00fcks\u00e9ges, III-as progresszivit\u00e1si\n                    szint\u0171 \u00fajsz\u00fcl\u00f6tt intenz\u00edv r\u00e9szlegen, gyermekkardiol\u00f3gus \u00e9s klinikai genetikus\n                    r\u00e9szv\u00e9tel\u00e9vel. Orv Hetil. 2022; 163(1): 21\u201330.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold>\n                    <jats:italic>Introduction:<\/jats:italic> The 22q11.2 microdeletion syndrome is the most\n                    common cause of DiGeorge syndrome, showing a wide phenotypic spectrum and has an\n                    estimated incidence of 1\/4000\u20136000 livebirths. <jats:italic>Objective:<\/jats:italic>\n                    Detailed characterization of the clinical signs\/symptoms associated with 22q11.2\n                    deletion, estimation of the national incidence <jats:italic>via<\/jats:italic> establishing\n                    a Hungarian register. <jats:italic>Method:<\/jats:italic> Retrospective data between 2005\n                    and 2019 from the 2<jats:sup>nd<\/jats:sup> Department of Paediatrics, Semmelweis\n                    University and from national database of congenital anomalies were obtained.\n                    Phenotypic abnormalities were described using the Human Phenotype Ontology\n                    nomenclature. <jats:italic>Results:<\/jats:italic> A cohort of 114 DiGeorge patients and\n                    113 patients negative for FISH testing were included. The mean age of patients\n                    at diagnosis was 5.88 (\u00b1 9.66 SD) years and 54.9% of patients had at least one\n                    heart surgery until diagnosis. The main identified symptoms were ventricular\n                    septal defect, low-set ears, recurrent infections, high narrow palate and motor\n                    development delay. <jats:italic>Discussion:<\/jats:italic> The estimated incidence of\n                    DiGeorge syndrome in Hungary is 1\/12 500 births, the frequency of infants at\n                    high risk and in need for surgery is high. Diagnosis is established 2\u20133 years\n                    earlier as compared to the international average. <jats:italic>Conclusion:<\/jats:italic>\n                    Based on the established Hungarian register, the incidence is lower compared to\n                    international data. In the case of conotruncal heart anomaly and ventricular\n                    septal defects, cytogenetic testing is recommended for the increased probability\n                    of DiGeorge syndrome. For second-tier testing, comparative genome hybridization\n                    or multiplex ligation-dependent probe amplification are recommended to identify\n                    atypical microdeletions. Newborns with DiGeorge syndrome require special care in\n                    perinatal intensive centers including pediatric cardiology and genetic\n                    counseling. 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J Psychiatr Res. 2010; 44: 1005-1009.","journal-title":"J Psychiatr Res"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1007\/s00431-004-1577-8","article-title":"Presenting phenotype in 100 children with the 22q11 deletion syndrome","volume":"164","author":"20 Oskarsd\u00f3ttir","year":"2005","unstructured":"20 Oskarsd\u00f3ttir S, Persson C, Eriksson BO, et al. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005; 164: 146-153.","journal-title":"Eur J Pediatr"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1002\/ajmg.c.31774","article-title":"2 deletion syndrome and congenital heart disease","volume":"184","author":"Goldmuntz E. 22q11","year":"2020","unstructured":"21 Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020; 184: 64-72.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref21","unstructured":"22 K\u00e1d\u00e1r K. 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