Evidence map›Paper›PMID 34853711›Full record

ArticleJournal of pediatric genetics2021

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of

Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Salvatore Savasta, Umberto Raucci, Piero Pavone

Open access · greenAbstract read
In one paragraph

Article in Journal of pediatric genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 28% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
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

6 authors at 3 institutions in 1 country.

Xena Giada PappalardoUnit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy.ORCID 0000-0002-4640-6677
Martino RuggieriSection of Pediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, AOU "Policlinico," PO "G. Rodolico," University of Catania, Catania, Italy.ORCID 0000-0002-2658-4249
Raffaele FalsaperlaUnit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU "Policlinico," PO "San Marco," University of Catania, Catania, Italy.ORCID 0000-0002-4482-3506
Salvatore SavastaPediatric Clinic, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy.ORCID 0000-0001-9238-0749
Umberto RaucciPediatric Intensive Care Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.ORCID 0000-0002-4881-2038
Piero PavoneUnit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU "Policlinico," PO "San Marco," University of Catania, Catania, Italy.ORCID 0000-0002-5600-9560
University of Catania · ITBambino Gesù Children's Hospital · ITPoliclinico San Matteo Fondazione · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of

Indexed as

4q deletion syndromeadducted thumbsaggressive behaviorcraniofacial featuresMARCH1 genemarked speech delayprecocious dentition

Identifiers

PMID34853711
PMCPMC8608485
OpenAlexW3210837910

What OpenQuestion holds

Textmetadata
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.