ReviewMolecular cytogenetics2016
Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants.
Review in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.Human genetics · 2026Article
- The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2026Article
- Review
- Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.Human genome variation · 2024Review
- The Importance of Monitoring Non-clonal Chromosome Aberrations (NCCAs) in Cancer Research.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Article
- DNA Copy Number Variations as Markers of Mutagenic Impact.International journal of molecular sciences · 2019Review
- From Human Cytogenetics to Human Chromosomics.International journal of molecular sciences · 2019Review
- What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution?Frontiers in genetics · 2019Review
- European guidelines for constitutional cytogenomic analysis.European journal of human genetics : EJHG · 2019Review
- Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.Molecular cytogenetics · 2018Review
- Why it is crucial to analyze non clonal chromosome aberrations or NCCAs?Molecular cytogenetics · 2016Article
- Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?Molecular cytogenetics · 2016Article
- Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.Molecular cytogenetics · 2016Article
- Chromosome heteromorphisms: do they entail a reproductive risk for male carriers?Asian journal of andrologyArticle
Corrections and comments
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Authors and funding
1 author.
Funding
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Abstract
backgroundCopy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every cytogeneticist microscopically visible harmless CNVs (CG-CNVs) are well known since decades. Harmless CG-CNVs can be present as heterochromatic or even as euchromatic variants in clinically healthy persons.
resultsHere I provide a review on what is known today on the still too little studied harmless human CG-CNVs, point out which can be mixed up with clinically relevant pathological CG-CNVs and shortly discuss that the artificial separation of euchromatic submicroscopic CNVs (MG-CNVs) and euchromatic CG-CNVs is no longer timely.
conclusionOverall, neither so-called harmless heterochromatic nor so-called harmless euchromatic CG-CNVs are considered enough in evaluation of routine cytogenetic analysis and reporting. This holds especially true when bearing in mind the so-called two-hit model suggesting that combination of per se harmless CNVs may lead to clinical aberrations if they are present together in one patient.
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