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Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome: insight from a systematic literature-based study

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Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy-number gains (CN gains) in 15q11-q13, primarily consisting of a pseudo (iso-)dicentric chromosome 15 [ (i)dic(15) ] or an...

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Main Authors: Burkart, Sebastian (Author) , Ries, Markus (Author) , Romero, Verena (Author) , Burau, Karin (Author) , Schaaf, Christian P. (Author) , Hempel, Maja (Author)
Format: Article (Journal)
Language:English
Published: 12 July 2025
In: American journal of medical genetics
Year: 2025, Volume: 197, Issue: 12, Pages: 1-9
ISSN:1552-4833
DOI:10.1002/ajmg.a.64186
Online Access:Resolving-System, kostenfrei, Volltext: https://doi.org/10.1002/ajmg.a.64186
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64186
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Author Notes:Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel
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Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome: insight from a systematic literature-based study by Burkart, Sebastian (Author) , Ries, Markus (Author) , Romero, Verena (Author) , Burau, Karin (Author) , Schaaf, Christian P. (Author) , Hempel, Maja (Author) ,


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