Evidence map›Paper›PMID 27036947›Full record

ArticleJournal of medical case reports2016

Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.

Thomas Bogs, Florian Kipfmüller, Nicolai Kohlschmidt, Ulrich Gembruch, Andreas Müller, Heiko Reutter

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Frontiers in pediatrics · 2018
    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

6 authors at 2 institutions in 1 country.

Thomas BogsDepartment of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
Florian KipfmüllerDepartment of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
Nicolai KohlschmidtInstitute of Clinical Genetics, Bonn, Germany.
Ulrich GembruchDepartment of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Andreas MüllerDepartment of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany.
Heiko ReutterDepartment of Neonatology and Pediatric Intensive Care, Children's Hospital University of Bonn, Sigmund-Freud-Strasse 25, D-53127, Bonn, Germany. reutter@uni-bonn.de.
University of Bonn · DEInstitute of Clinical Cancer Research · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrevious reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION: We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agenesis and left-sided, isolated congenital diaphragmatic hernia in his son, who inherited the chromosomal aberration from his father.

conclusionsGiven that the aberration occurred de novo in the father and was transmitted to his son, with both presenting with unilateral left-sided developmental field defects, we suggest a gene dosage effect of the tetrasomic region to be involved in the phenotype of our two patients. Furthermore, we suggest performing a genetic workup in multiplex families with congenital malformations.

Indexed as

TetrasomyChromosomes, Human, Pair 4Congenital AbnormalitiesHernias, Diaphragmatic, CongenitalHumansInfant, NewbornKaryotypeKaryotypingKidneyKidney DiseasesMaleCase reportCongenital diaphragmatic herniaEar anomalyPartial tetrasomy 4q35.2Unilateral renal agenesis

Identifiers

PMID27036947
PMCPMC4818464
OpenAlexW2312539816

What OpenQuestion holds

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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.