Evidence map›Paper›PMID 25548634›Full record

ArticleClinical case reports2014

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

Carolina Sanchez-Jimeno, Ana Bustamante-Aragonés, Fernando Infantes-Barbero, Marta Rodriguez De Alba, Carmen Ramos, María Jose Trujillo-Tiebas, Isabel Lorda-Sánchez

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

Article in Clinical case reports, 2014. 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 90% 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, 1 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

7 authors at 3 institutions in 1 country.

Carolina Sanchez-JimenoDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain.
Ana Bustamante-AragonésDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
Fernando Infantes-BarberoDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain.
Marta Rodriguez De AlbaDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
Carmen RamosDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
María Jose Trujillo-TiebasDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
Isabel Lorda-SánchezDepartment of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
Hospital Universitario Fundación Jiménez Díaz · ESCentre for Biomedical Network Research on Rare Diseases · ESCentro de Investigación Biomédica en Red · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

key clinical meassagePatients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.

Indexed as

16q Deletion CGH array17p duplicationinterstitial rearrangementsmental retardationMR/MCA syndromesPotocki syndromeTownes–Brocks syndrome

Identifiers

PMID25548634
PMCPMC4270714
OpenAlexW2065362902

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.