Genc, Gunes CakmakYilmaz, BusraCelik, Sevim KarakasAydemir, CumhurEroz, RecepDursun, Ahmet2024-08-232024-08-2320242472-1727https://doi.org/10.1002/bdr2.2346https://hdl.handle.net/20.500.12684/14586Aim: 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.en10.1002/bdr2.2346info:eu-repo/semantics/closedAccesschromosomal rearrangementsmicrocephalyNBN geneNijmegen breakage syndrome (NBS)radiosensitivityAtaxia-TelangiectasiaInstabilityDisorderComplexArticle1165387610252-s2.0-85193525156WOS:001226493500001Q1N/A