Evidence map›Paper›PMID 38927586›Full record

ArticleGenes2024

An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?

Graziano Santoro, Mariarosaria Incoronato, Edoardo Spagnoli, Ilaria Gabbiato, Simona Contini, Marta Piovan, Maurizio Ferrari, Cristina Lapucci, Daniela Zuccarello

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. 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

9 authors.

Graziano SantoroGenetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy.ORCID 0000-0002-6459-5846
Mariarosaria IncoronatoIRCCS, SYNLAB SDN, Via Gianturco 113, 80143 Napoli, Italy.ORCID 0000-0001-7019-0581
Edoardo SpagnoliGenetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy.
Ilaria GabbiatoUOC Genetica Epidemiologia Clinica, Azienda Ospedale Università di Padova, Via Giustiniani 2, 35128 Padova, Italy.
Simona ContiniGenetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy.
Marta PiovanGenetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy.
Maurizio FerrariIRCCS, SYNLAB SDN, Via Gianturco 113, 80143 Napoli, Italy.
Cristina LapucciGenetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy.
Daniela ZuccarelloUOC Genetica Epidemiologia Clinica, Azienda Ospedale Università di Padova, Via Giustiniani 2, 35128 Padova, Italy.ORCID 0000-0001-5826-6715

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the

Indexed as

Chromosome DeletionAbnormalities, MultipleChild, PreschoolDevelopmental DisabilitiesFemaleHumansIntellectual DisabilityPhenotypeSyndrome10p11.2 deletionarray CGHWAC gene

Identifiers

PMID38927586
PMCPMC11203018

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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.