Evidence map›Paper›PMID 31923267›Full record

ArticlePloS one2020

Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect.

Alessandra Iannuzzi, Marina Braun, Viviana Genualdo, Angela Perucatti, Sina Reinartz, Ioannis Proios, Maike Heppelmann, Jürgen Rehage, Kirsten Hülskötter, Andreas Beineke and 2 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.6field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Molecular Cytogenetics in Domestic Bovids: A Review.Animals : an open access journal from MDPI · 2023
    Review
  6. Article
  7. Chromosome Abnormalities and Fertility in Domestic Bovids: A Review.Animals : an open access journal from MDPI · 2021
    Review
  8. Article
  9. Article
  10. Review
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

12 authors at 2 institutions in 2 countries.

Alessandra IannuzziInstitute for the Animal Production System in Mediterranean Environment (ISPAAM), National Research Council (CNR), Naples, Italy.ORCID 0000-0002-2693-3111
Marina BraunInstitute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Viviana GenualdoInstitute for the Animal Production System in Mediterranean Environment (ISPAAM), National Research Council (CNR), Naples, Italy.
Angela PerucattiInstitute for the Animal Production System in Mediterranean Environment (ISPAAM), National Research Council (CNR), Naples, Italy.
Sina ReinartzInstitute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Ioannis ProiosClinic for Cattle, University of Veterinary Medicine Hannover, Hannover, Germany.ORCID 0000-0003-2020-5807
Maike HeppelmannClinic for Cattle, University of Veterinary Medicine Hannover, Hannover, Germany.
Jürgen RehageClinic for Cattle, University of Veterinary Medicine Hannover, Hannover, Germany.
Kirsten HülskötterDepartment of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
Andreas BeinekeDepartment of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
Julia MetzgerInstitute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Ottmar DistlInstitute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.ORCID 0000-0002-3516-836X
University of Veterinary Medicine Hannover, Foundation · DEIstituto per il Sistema Produzione Animale in Ambiente Mediterraneo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypospadias, disorder of sex development (DSD), is a sporadic congenital abnormality of the genital region in male ruminants, which is characterized by a non-fused urethra during fetal development. Detailed clinical examination classified the hypospadias phenotype of a male Holstein calf studied here as the perineal type. In combined use of cytogenetic analysis and whole genome sequencing, a non-mosaic, pseudo-monosomy 59, XY + tan(18;27) was detected. This chromosomal aberration had its origin in a tandem fusion translocation of the bovine autosomes (BTA) 18 and 27 with an accompanying loss of genomic sequences mainly in the distal end of BTA 18 and the proximal end of BTA 27. The resulting phenotype included hypospadias, growth retardation and ventricular septal defect.

Indexed as

Chromosome AberrationsAnimalsCattleCattle DiseasesCytogenetic AnalysisHeart Septal Defects, VentricularHypospadiasMaleMonosomyTranslocation, GeneticWhole Genome Sequencing

Identifiers

PMID31923267
PMCPMC6953810
OpenAlexW3000334589

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.