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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) Chapter/Article
Language:English
Published: 28 Jan. 2025
In: Research Square
Year: 2025, Pages: 1-19
ISSN:2693-5015
DOI:10.21203/rs.3.rs-5833554/v1
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.21203/rs.3.rs-5833554/v1
Verlag, kostenfrei, Volltext: https://www.researchsquare.com/article/rs-5833554/v1
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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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