Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome

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dc.authoridkarakaş çelik, sevim/0000-0003-0505-7850en_US
dc.authoridYILMAZ, Büşra/0000-0001-7888-5513en_US
dc.authorscopusid56650908400en_US
dc.authorscopusid57446385100en_US
dc.authorscopusid54901776800en_US
dc.authorscopusid8960776600en_US
dc.authorscopusid34868115100en_US
dc.authorscopusid14028431900en_US
dc.authorwosidkarakaş çelik, sevim/C-3773-2018en_US
dc.authorwosidYILMAZ, Büşra/IQS-5099-2023en_US
dc.contributor.authorGenc, Gunes Cakmak
dc.contributor.authorYilmaz, Busra
dc.contributor.authorCelik, Sevim Karakas
dc.contributor.authorAydemir, Cumhur
dc.contributor.authorEroz, Recep
dc.contributor.authorDursun, Ahmet
dc.date.accessioned2024-08-23T16:07:18Z
dc.date.available2024-08-23T16:07:18Z
dc.date.issued2024en_US
dc.departmentDüzce Üniversitesien_US
dc.description.abstractAim: Nijmegen breakage syndrome (NBS) is an autosomal recessive DNA repair disorder which is characterized by immunodeficiency and increased risk of lymphoproliferative malignancy. Case: We observed an increase in the rate of chromosomal rearrangements in the cultured cells following an incidental radiograph for craniosynostosis in a newborn who was followed up due to microcephaly. We identified a homozygous deletion of c.657_661delACAAA/p.Lys219fs (rs587776650) in the NBN gene through whole exome sequencing. Conclusion: It is crucial to thoroughly examine the clinical features of newborns with microcephaly and consider chromosomal instability syndromes just like Nijmegen breakage syndrome. Not overlooking radiosensitivity, which is a characteristic feature of this syndrome, is a vital condition to the patient's survival time.en_US
dc.identifier.doi10.1002/bdr2.2346
dc.identifier.issn2472-1727
dc.identifier.issue5en_US
dc.identifier.pmid38761025en_US
dc.identifier.scopus2-s2.0-85193525156en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1002/bdr2.2346
dc.identifier.urihttps://hdl.handle.net/20.500.12684/14586
dc.identifier.volume116en_US
dc.identifier.wosWOS:001226493500001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofBirth Defects Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectchromosomal rearrangementsen_US
dc.subjectmicrocephalyen_US
dc.subjectNBN geneen_US
dc.subjectNijmegen breakage syndrome (NBS)en_US
dc.subjectradiosensitivityen_US
dc.subjectAtaxia-Telangiectasiaen_US
dc.subjectInstabilityen_US
dc.subjectDisorderen_US
dc.subjectComplexen_US
dc.titleRadiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndromeen_US
dc.typeArticleen_US

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