Evidence map›Paper›PMID 38589928›Full record

ArticleMolecular cytogenetics2024

Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.

Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili and 5 more

Open access · goldAbstract read
In one paragraph

Article in Molecular cytogenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 98% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Article
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

15 authors at 2 institutions in 1 country.

Giulia Vitetta *Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Laura Desiderio *Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Ilaria BaccoliniMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Vera UlianaMedical Genetics Unit, University Hospital of Parma, Parma, Italy.
Giulia LanzoniMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Tullio GhiObstetrics & Gynecology, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Gianluigi PiluObstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Enrico AmbrosiniMedical Genetics Unit, University Hospital of Parma, Parma, Italy.
Patrizia CaggiatiMedical Genetics Unit, University Hospital of Parma, Parma, Italy.
Valeria BariliMedical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Anna Carmela TrottaTOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Varese, Italy.
Maria Rosaria LiutiTOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Varese, Italy.
Elisabetta MalpezziMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Maria Carla Pittalis *Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. mariacarla.pittalis@aosp.bo.it.
Antonio Percesepe *Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
Azienda USL di Bologna · ITUniversity of Parma · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s in the embryo and the unfavourable imbalances in placental tissues was documented in our previous paper and in the literature. We report four additional cases with mosaic derivative chromosomes in different feto-placental tissues, further showing the instability of an intermediate gross imbalance as a frequent mechanism of de novo cryptic deletions and duplications. In conclusion we underline how the extensive remodeling of unbalanced chromosomes in placental tissues represents the 'backstage' of de novo structural rearrangements, as the early phases of a long selection process that the genome undergo during embryogenesis.

Indexed as

Chorionic villiCryptic rearrangementGenomic instability

Identifiers

PMID38589928
PMCPMC11003029
OpenAlexW4394581898

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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.