Evidence map›Paper›PMID 32760450›Full record

ArticleMolecular cytogenetics2020

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

Sabine Dittner-Moormann, Madlen Reschke, Eva Biewald, Alma Kuechler, Barbara Klein, Beate Timmermann, Dietmar Lohmann, Petra Ketteler, Deniz Kanber

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

Article in Molecular cytogenetics, 2020. 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 43% 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, 5 citations in OpenAlex.

  1. Article
  2. Gonadal Function in Boys with Bilateral Undescended Testes.Journal of the Endocrine Society · 2024
    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

9 authors at 4 institutions in 1 country.

Sabine Dittner-MoormannDepartment of Pediatric Hematology and Oncology, University Hospital Essen, Hufelandstraße 55, 45147 Essen, Germany.
Madlen ReschkeDepartment of Pediatric Hematology, Oncology and Stem Cell Transplantation, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Eva BiewaldDepartment of Ophthalmology, University Hospital Essen, Essen, Germany.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, Essen, Germany.
Barbara KleinSozialpädiatrisches Zentrum, Klinikum Frankfurt Höchst GmbH, Frankfurt a. M, Germany.
Beate TimmermannDepartment of Particle Therapy, West German Proton Therapy Centre Essen (WPE), West German Cancer Center (WTZ), German Cancer Consortium (DKTK), University Hospital Essen, Essen, Germany.
Dietmar LohmannInstitute of Human Genetics, University Hospital Essen, Essen, Germany.
Petra Ketteler *Department of Pediatric Hematology and Oncology, University Hospital Essen, Hufelandstraße 55, 45147 Essen, Germany.
Deniz Kanber *Institute of Human Genetics, University Hospital Essen, Essen, Germany.
Essen University Hospital · DECharité - Universitätsmedizin Berlin · DEDeutschen Konsortium für Translationale Krebsforschung · DEKlinikum Frankfurt Höchst · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRetinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of

resultHere, we describe a patient with profound muscle hypotonia, severe developmental delay and bilateral retinoblastoma carrying a large deletion in 13q13.3q14 with the size of 16 Mb, involving the

conclusionBalanced translocations in parents are a rare cause of de novo

Indexed as

13q deletionBalanced translocationComplex chromosomal rearrangementRetinoblastoma

Identifiers

PMID32760450
PMCPMC7379829
OpenAlexW3045179381

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.