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| Title |
Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants
|
|---|---|
| Published in |
Molecular Cytogenetics, January 2016
|
| DOI | 10.1186/s13039-016-0216-1 |
| Pubmed ID | |
| Authors |
Thomas Liehr |
| Abstract |
Copy 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. Here 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. Overall, 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 27 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 22% |
| Student > Ph. D. Student | 3 | 11% |
| Student > Doctoral Student | 2 | 7% |
| Professor | 2 | 7% |
| Other | 2 | 7% |
| Other | 5 | 19% |
| Unknown | 7 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 22% |
| Agricultural and Biological Sciences | 6 | 22% |
| Medicine and Dentistry | 4 | 15% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 4% |
| Neuroscience | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 8 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 August 2016.
All research outputs
#18,467,278
of 22,882,389 outputs
Outputs from Molecular Cytogenetics
#235
of 402 outputs
Outputs of similar age
#285,920
of 395,290 outputs
Outputs of similar age from Molecular Cytogenetics
#22
of 30 outputs
Altmetric has tracked 22,882,389 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 402 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 26th percentile – i.e., 26% of its peers scored the same or lower than it.
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