Evidence map›Paper›PMID 32604767›Full record

ArticleGenes2020

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.

Orazio Palumbo, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, Marco Castori

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

11 citing papers in PubMed, 18 citations in OpenAlex.

  1. A Novel Mutation of CADHERIN (Clinical case reports · 2025
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  8. Compound Heterozygosity forAudiology research · 2021
    Article
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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 1 institution in 1 country.

Orazio PalumboDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0001-6583-3482
Pietro PalumboDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0001-9498-9902
Ester Di MuroDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Luigia CinqueDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Antonio PetraccaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Massimo CarellaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.
Casa Sollievo della Sofferenza · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a

Indexed as

CadherinsChromosome DeletionChromosome DuplicationChromosomes, Human, Pair 16Comparative Genomic HybridizationData ManagementGenomicsHumansIntellectual DisabilityLanguage Development DisordersMalePhenotypePolymorphism, Single NucleotideRepressor ProteinsANKRD11 protein, humanCadherinsM-cadherinRepressor Proteins16q24.2q24.3 microduplicationemerging syndromehigh resolution SNP-Array analysisneurodevelopmental disorders

Identifiers

PMID32604767
PMCPMC7349372
OpenAlexW3037857818

What OpenQuestion holds

Textmetadata
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.