Your browser doesn't support javascript.
loading
Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.
Cakmak Genc, Gunes; Yilmaz, Busra; Karakas Celik, Sevim; Aydemir, Cumhur; Eroz, Recep; Dursun, Ahmet.
Afiliación
  • Cakmak Genc G; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
  • Yilmaz B; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
  • Karakas Celik S; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
  • Aydemir C; Department of Pediatrics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
  • Eroz R; Department of Medical Genetics, Faculty of Medicine, Düzce University, Duzce, Turkey.
  • Dursun A; Department of Medical Genetics, Faculty of Medicine, Zonguldak Bülent Ecevit University Zonguldak, Turkey.
Birth Defects Res ; 116(5): e2346, 2024 May.
Article en En | MEDLINE | ID: mdl-38761025
ABSTRACT

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.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tolerancia a Radiación / Síndrome de Nijmegen / Microcefalia Límite: Female / Humans / Male / Newborn Idioma: En Revista: Birth Defects Res Año: 2024 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tolerancia a Radiación / Síndrome de Nijmegen / Microcefalia Límite: Female / Humans / Male / Newborn Idioma: En Revista: Birth Defects Res Año: 2024 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos