Evidence map›Paper›PMID 31798640›Full record

ArticleFrontiers in genetics2019

Recombinant Chromosomes Resulting From Parental Pericentric Inversions-Two New Cases and a Review of the Literature.

Thomas Liehr, Anja Weise, Kristin Mrasek, Monika Ziegler, Niklas Padutsch, Kathleen Wilhelm, Ahmed Al-Rikabi

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 14 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Thomas LiehrInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Anja WeiseInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Kristin MrasekInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Monika ZieglerInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Niklas PadutschInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Kathleen WilhelmInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Ahmed Al-RikabiInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
Friedrich Schiller University Jena · DEJena University Hospital · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplication or deletion of the entire or parts of the inverted segment in the offspring. However, also partial deletion and duplication may be an effect of a parental inversion, depending on the size of the inversion and the uneven number of crossing over events, also suggested to be due to an inversion loop. Here we describe two new cases of recombinant chromosomes and provide a review of the literature of comparable cases. Interestingly, this survey confirmed the general genetic principle that gain of copy numbers are better tolerated than losses. Furthermore, there is a non-random distribution of all human chromosomes concerning their involvement in recombinant formation, which is also discussed.

Indexed as

balanced pericentric inversiondeletiondosage sensitive genesduplicationrecombinant chromosomes

Identifiers

PMID31798640
PMCPMC6868022
OpenAlexW2989208959

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.