A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy

Telomeres play a major role in maintaining genome stability and integrity. Putative involvement of telomere dysfunction in the formation of various types of chromosomal aberrations is an area of active research. Here, we report a case of a six-month-old boy with a chromosomal gain encompassing the 1...

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Detalles Bibliográficos
Autores principales: M’Kacher, Radhia, Miguet, Marguerite, Maillard, Pierre-Yves, Colicchio, Bruno, Scheidecker, Sophie, Najar, Wala, Arnoux, Micheline, Oudrhiri, Noufissa, Borie, Claire, Biehler, Margaux, Plesch, Andreas, Heidingsfelder, Leonhard, Bennaceur-Griscelli, Annelise, Dieterlen, Alain, Voisin, Philippe, Junker, Steffen, Carde, Patrice, Jeandidier, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601474/
https://www.ncbi.nlm.nih.gov/pubmed/36292646
http://dx.doi.org/10.3390/genes13101762

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