Evidence map›Paper›PMID 33738037›Full record

ArticleThe Pan African medical journal2020

1p36 deletion syndrome: first case report in Morocco detected by fluorescence

Kenza Dafir, Fatima Zahra Bouzid, Maria Mansouri, Nisrine Aboussair

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

Article in The Pan African medical journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 85% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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.

Kenza DafirGenetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.
Fatima Zahra BouzidGenetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.
Maria MansouriGenetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.
Nisrine AboussairGenetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.
Centre Hospitalier Universitaire Mohammed VI · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive dysmorphia, delayed growth, psychomotor retardation, intellectual deficit, epilepsy and heart defects. Fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH-array) are currently the two best diagnostic techniques. The objective of this work is to take stock of the first Moroccan case of 1p36 deletion and to illustrate the role of the geneticist in the diagnosis and management of this syndrome. There is currently no effective medical treatment for this disease.

Indexed as

In Situ Hybridization, FluorescenceChild, PreschoolChromosome DeletionChromosome DisordersChromosomes, Human, Pair 1Comparative Genomic HybridizationFemaleHumansMorocco1p36 deletioncase reportdelayed developmentfacial dysmorphiafluorescence in situ hybridization

Identifiers

PMID33738037
PMCPMC7934206
OpenAlexW3111266316

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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.