Evidence map›Paper›PMID 34303382›Full record

ArticleMolecular cytogenetics2021

Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.

Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou and 2 more

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

Article in Molecular cytogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
–field-weighted citation impact, top 91% 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

12 authors at 4 institutions in 2 countries.

Nikolaos VrachnisThird Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece. nvrachnis@hotmail.com.ORCID http://orcid.org/0000-0001-9067-5308
Ioannis PapoulidisAccess To Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
Dionysios VrachnisDepartment of Clinical Therapeutics, National and Kapodistrian University of Athens, Medical School, Alexandra Hospital, Athens, Greece.
Elisavet SiomouAccess To Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
Nikolaos AntonakopoulosThird Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Medical School, Attikon Hospital, Athens, GR, Greece.
Stavroula OikonomouSecond Department of Pediatrics, Aglaia Kyriakou Hospital, Medical School, National & Kapodistrian University of Athens, Athens, Greece.
Dimitrios ZygourisResearch Centre in Obstetrics and Gynecology, HSOGE, Athens, Greece.
Nikolaos LoukasDepartment of Gynecology, General Hospital of Athens "G. Gennimatas", Athens, Greece.
Zoi IliodromitiNeonatal Department, National and Kapodistrian University of Athens Medical School, Aretaieio Hospital, Athens, Greece.
Efterpi PavlidouDepartment of Pediatrics, School of Medicine, Aristotle University of Thessaloniki, University General Hospital AHEPA, Thessaloniki, Greece.
Loretta ThomaidisSecond Department of Pediatrics, Aglaia Kyriakou Hospital, Medical School, National & Kapodistrian University of Athens, Athens, Greece.
Emmanouil ManolakosAccess To Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
National and Kapodistrian University of Athens · GRAristotle University of Thessaloniki · GRGeneral Hospital of Athens G. Genimatas · GRSt George's, University of London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways. CASE PRESENTATION: We report a 2.8-year old boy presenting with developmental delay and mild dysmorphisms. High-resolution oligonucleotide microarray analysis revealed with high precision a 2.5 Mb interstitial 6p deletion in the 6p22.3 region which encompasses 13 genes.

conclusionsIdentification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion.

Indexed as

6p22.3 deletionBehavioral abnormalitiesDevelopmental delayDysmorphismHigh-resolution microarray analysisIntellectual disabilitySyndrome

Identifiers

PMID34303382
PMCPMC8310580
OpenAlexW3186904073

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