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
About this item
Full title
Author / Creator
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 and Weise, Anja
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 color fluorescence in situ hybridization (FISH), yet. In the latte...
Alternative Titles
Full title
Parental origin of deletions and duplications – about the necessity to check for cryptic inversions
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2f1d056e4fde486589670468907f3f98
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2f1d056e4fde486589670468907f3f98
Other Identifiers
ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-018-0369-1
