Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions

Abstract Background Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by...

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Bibliographic Details
Main Authors: Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Format: Article
Language:English
Published: BMC 2018-03-01
Series:Molecular Cytogenetics
Subjects:
Copy number variants (CNVs)
Microdeletion/microduplication syndromes (MMSs)
Three color fluorescence in situ hybridization (FISH)
Inversion
Deletion
Duplication
Online Access:http://link.springer.com/article/10.1186/s13039-018-0369-1

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http://link.springer.com/article/10.1186/s13039-018-0369-1

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