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

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 two colo...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Liehr, Thomas, Schreyer, Isolde, Kuechler, Alma, Manolakos, Emmanouil, Singer, Sylke, Dufke, Andreas, Wilhelm, Kathleen, Jančušková, Tereza, Čmejla, Radek, Othman, Moneeb A. K., Al-Rikabi, Ahmed H., Mrasek, Kristin, Ziegler, Monika, Kankel, Stefanie, Kreskowski, Katharina, Weise, Anja
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5845138/
https://ncbi.nlm.nih.gov/pubmed/29541160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0369-1
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