FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities

dc.contributor.buuauthorYakut, Tahsin
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.buuauthorÇil, Ergün
dc.contributor.buuauthorYapıcı, Esra
dc.contributor.buuauthorEgeli, Ünal
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-7904-883Xtr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.researcheridAAG-9324-2021tr_TR
dc.contributor.researcheridAAH-1420-2021tr_TR
dc.contributor.researcheridAAH-3865-2021tr_TR
dc.contributor.scopusid6602802424tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.contributor.scopusid35587943300tr_TR
dc.contributor.scopusid12797930700tr_TR
dc.contributor.scopusid55665145000tr_TR
dc.date.accessioned2021-12-14T06:03:30Z
dc.date.available2021-12-14T06:03:30Z
dc.date.issued2006
dc.description.abstractDiGeorge anomaly/velocardiofacial syndrome (DG/VCFS), called 22q11.2 deletion syndrome in general, is the most common chromosomal deletion syndrome found in humans. Typical facial features, palatal defects, conotruncal abnormalities of the heart, aplasia/hypoplasia of the parathyroid glands and of thymus are characteristics of this syndrome. Deletions of chromosome 22q11.2 (del22q11.2) are the leading causes of DG7VCFS. We report on a systematic search by fluorescence in situ hybridization (FISH) for deletions of chromosomes 22q11.2 in patients with a clinical suspicion or diagnosis of DG/VCFS. Using FISH we studied a series of 43 patients with suspected DG/VCFS. In this study, a total of 43 patients were investigated for the presence of a 22q11.2 deletion over a two-year period. Del22q11.2 was detected in 5 of the 43 patients tested. All patients with deletion had hypocalcemia, 80% had cardiac defects, 40% had facial dysmorphism, 40% had immunodeficiency , and 20% had otolaryngeal abnormalities. Chromosome 22q11.2 deletion is a relatively common condition and is readily diagnosed by FISH. We suggest that FISH analysis of 22q11.2 deletion should be performed in the presence of combined of hypocalcemia and congenital cardiac malformations, with or without any characteristics of the disease. This may facilitate an early diagnosis in such patients.en_US
dc.identifier.citationYakut, T. vd. (2006). ''FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities''. Pediatric Surgery International, 22(4), 380-383.en_US
dc.identifier.endpage383tr_TR
dc.identifier.issn0179-0358
dc.identifier.issn1437-9813
dc.identifier.issue4tr_TR
dc.identifier.pubmed16463032tr_TR
dc.identifier.scopus2-s2.0-33645412998tr_TR
dc.identifier.startpage380tr_TR
dc.identifier.urihttps://link.springer.com/article/10.1007%2Fs00383-006-1641-8
dc.identifier.urihttps://doi.org/10.1007/s00383-006-1641-8
dc.identifier.urihttp://hdl.handle.net/11452/23223
dc.identifier.volume22tr_TR
dc.identifier.wos000236488000014tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.journalPediatric Surgery Internationalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPediatricsen_US
dc.subjectSurgeryen_US
dc.subjectVCFSen_US
dc.subjectImmunodeficiencyen_US
dc.subjectHypocalcemiaen_US
dc.subjectFISH (Fluorescent in situ hybridization)en_US
dc.subjectDiGeorge syndromeen_US
dc.subjectChromosome 22q11.2en_US
dc.subjectFeaturesen_US
dc.subjectDiagnosisen_US
dc.subjectChromosome-22en_US
dc.subjectFacial syndromeen_US
dc.subjectDigeorge-syndromeen_US
dc.subject.emtreeVelocardiofacial syndromeen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeNewbornen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeImmune deficiencyen_US
dc.subject.emtreeHypoparathyroidismen_US
dc.subject.emtreeHypocalcemiaen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHigh risk patienten_US
dc.subject.emtreeHeart diseaseen_US
dc.subject.emtreeFluorescence in situ hybridizationen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFace dysmorphiaen_US
dc.subject.emtreeEarly diagnosisen_US
dc.subject.emtreeDiGeorge syndromeen_US
dc.subject.emtreeCongenital heart malformationen_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeChromosome deletionen_US
dc.subject.emtreeChromosome 22qen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeArticleen_US
dc.subject.meshProspective studiesen_US
dc.subject.meshMaleen_US
dc.subject.meshInfant, newbornen_US
dc.subject.meshInfanten_US
dc.subject.meshIn situ hybridization, fluorescenceen_US
dc.subject.meshImmune system diseasesen_US
dc.subject.meshHumansen_US
dc.subject.meshHeart diseasesen_US
dc.subject.meshGene deletionen_US
dc.subject.meshFemaleen_US
dc.subject.meshDiGeorge syndromeen_US
dc.subject.meshDiagnosis, differentialen_US
dc.subject.meshChromosomes, human, pair 22en_US
dc.subject.meshChild, preschoolen_US
dc.subject.scopusDigeorge Syndrome; 22Q11 Deletion Syndrome; Chromosome Lossen_US
dc.subject.wosPediatricsen_US
dc.subject.wosSurgeryen_US
dc.titleFISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalitiesen_US
dc.typeArticle
dc.wos.quartileQ4en_US

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