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

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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Bibliographic Details
Main Authors: Radhia M’Kacher, Marguerite Miguet, Pierre-Yves Maillard, Bruno Colicchio, Sophie Scheidecker, Wala Najar, Micheline Arnoux, Noufissa Oudrhiri, Claire Borie, Margaux Biehler, Andreas Plesch, Leonhard Heidingsfelder, Annelise Bennaceur-Griscelli, Alain Dieterlen, Philippe Voisin, Steffen Junker, Patrice Carde, Eric Jeandidier
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Genes
Subjects:
postnatal
telomere
sub-telomere region
duplication
trisomy
chromosomal instability
Online Access:https://www.mdpi.com/2073-4425/13/10/1762

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https://www.mdpi.com/2073-4425/13/10/1762

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