Evidence map›Paper›PMID 28064333›Full record

ArticleNeurosciences (Riyadh, Saudi Arabia)2017

Neurological expression of an inherited translocation of chromosomal 1 and 7.

Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabarki

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Neurosciences (Riyadh, Saudi Arabia), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 100% 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 synthesis or guideline pooled it, 1 citations in OpenAlex.

  1. Pooled it
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

4 authors at 1 institution in 1 country.

Nabil A AlMajhadDivision of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
Amal M AlHashem
Inesse A Bouhjar
Brahim M Tabarki
Riyadh Armed Forces Hospital · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.

Indexed as

Translocation, GeneticBrainChromosomes, Human, Pair 1Chromosomes, Human, Pair 7Comparative Genomic HybridizationDevelopmental DisabilitiesFemaleHumansMalePedigree

Identifiers

PMID28064333
PMCPMC5726840
OpenAlexW2567460251

What OpenQuestion holds

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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.