Evidence map›Paper›PMID 41873278›Full record

ArticleCureus2026

Family-Based Interpretation of a Prenatally Detected 15q11.2 Duplication.

Andreas E Spathi, Stylianos Lagios, Vassilis Papanikolaou, Charilaos Kostoulas, Athanasia Sesse, Eleni Theochari, Theoni Leoutsakou, Alexandros Psarris, Maria Kavvadia, Theano Stauroulaki and 3 more

Abstract readCase Reports
In one paragraph

Article in Cureus, 2026. 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

13 authors.

Andreas E SpathiDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Stylianos LagiosDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Vassilis PapanikolaouDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Charilaos KostoulasLaboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, GRC.
Athanasia SesseLaboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, GRC.
Eleni TheochariDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Theoni LeoutsakouDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Alexandros PsarrisFirst Department of Obstetrics and Gynecology, Alexandra General Hospital, National and Kapodistrian University of Athens, Athens, GRC.
Maria KavvadiaDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Theano StauroulakiDepartment of Genetics, Alexandra General Hospital, Athens, GRC.
Aspasia DestouniThird Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, GRC.
Ioannis GeorgiouLaboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, GRC.
Andreas PampanosDepartment of Genetics, Alexandra General Hospital, Athens, GRC.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosome region 15q11-q13 is prone to structural rearrangements and contains imprinted genes associated with several neurodevelopmental syndromes. In this report, we present the case of a 518 kb duplication in 15q11.2, identified prenatally through array comparative genomic hybridization. Parental testing revealed that the duplication was paternally inherited and originated from the asymptomatic paternal grandmother. The duplicated region harbored the OMIM genes

Indexed as

15q11.2 duplicationarray cghfamily studiesgenetic counsellingprenatal testing

Identifiers

PMID41873278
PMCPMC13005921

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.