Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome
Küçük Resim Yok
Tarih
2024
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Aim: 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.
Açıklama
Anahtar Kelimeler
chromosomal rearrangements, microcephaly, NBN gene, Nijmegen breakage syndrome (NBS), radiosensitivity, Ataxia-Telangiectasia, Instability, Disorder, Complex
Kaynak
Birth Defects Research
WoS Q Değeri
N/A
Scopus Q Değeri
Q1
Cilt
116
Sayı
5
