Evidence map›Paper›PMID 41300817›Full record

ReviewGenes2025

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Christian Peña-Padilla, David Alejandro Martínez-Ceccopieri, Evelin Montserrat García-Hernández, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2025. 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
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.

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

5 authors.

Christian Peña-PadillaService of Genetics, Division of Pediatrics, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0003-2263-8307
David Alejandro Martínez-CeccopieriMaternal-Fetal Medicine Unit, Division of Obstetrics and Gynecology, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0002-5260-7723
Evelin Montserrat García-HernándezResearch Coordination, "Fray Antonio Alcalde" Civil Hospital of Guadalajara, Guadalajara 44340, Mexico.ORCID 0009-0006-3120-4323
Lucina Bobadilla-MoralesCytogenetics Unit, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0001-7324-2287
Jorge Román Corona-RiveraService of Genetics, Division of Pediatrics, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara 44340, Mexico.ORCID 0000-0002-4626-148X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosome 6q deletion syndrome is a rare entity that has a highly variable clinical presentation and size of deletions. The most frequent manifestations of 6q terminal deletion are intellectual disability, facial dysmorphism, brain structural anomalies, and congenital heart defects. The phenotype is not clinically recognizable, except in those who harbor a terminal 6q deletion that includes the

Indexed as

Abnormalities, MultipleChromosomes, Human, Pair 6DNA-Binding ProteinsFaceHand Deformities, CongenitalIntellectual DisabilityMicrognathismNeckTranscription FactorsAdultChromosome DeletionFemaleHumansInfant, NewbornPhenotypePregnancyARID1B protein, humanDNA-Binding ProteinsTranscription Factorsagenesis of corpus callosumARID1Barray-CGHchromosome 6q deletionCoffin–Siris phenotypefifth fingernail hypoplasiaprenatal diagnosis

Identifiers

PMID41300817
PMCPMC12652033

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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.