Evidence map›Paper›PMID 42298276›Full record

ArticleJournal of applied genetics2026

The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.

Aleksandra Jakubiak, Marta Rowińska, Gabriela Gardas, Paweł Skiba, Elżbieta Szmida, Ryszard Ślęzak, Agnieszka Stembalska, Robert Śmigiel, Agnieszka Pawelak, Izabella Jabłońska and 3 more

Abstract read
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In one paragraph

Article in Journal of applied genetics, 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.

Aleksandra JakubiakDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland. aleksandra.jakubiak@umw.edu.pl.ORCID http://orcid.org/0000-0003-1827-0132
Marta RowińskaDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Gabriela GardasDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Paweł SkibaDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Elżbieta SzmidaDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Ryszard ŚlęzakDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Agnieszka StembalskaDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Robert ŚmigielDepartment and Clinic of Pediatrics, Endocrinology, Diabetology, and Metabolic Diseases, Wroclaw Medical University, Wroclaw, Poland.
Agnieszka PawelakDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Izabella JabłońskaDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Izabela ŁaczmańskaDepartment of Clinical and Experimental Pathology, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland.
Justyna GilDepartment of Genetics, Wroclaw Medical University, Ul. Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Maria SąsiadekFaculty of Medicine, Wroclaw University of Science and Technology, Wroclaw, Poland.

Funding

Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu SUBZ.A.290.24.023).
6 · The paper itself

Abstract

Array Comparative Genomic Hybridization (aCGH) enables genome-wide detection of copy number variants (CNVs), representing a major advance in diagnosing neurodevelopmental disorders and congenital anomalies. We performed aCGH in 1,468 patients referred for genetic evaluation due to neurodevelopmental delay, dysmorphic features, and congenital malformations. Pathogenic CNVs were detected in 24.5% of patients. The highest frequency of unbalanced aberrations occurred on chromosomes X, 15, 1, and 7. Most CNVs were small (< 10 Mbp), though entire-chromosome duplications (notably on 8, 9, and X) were also observed. The diagnostic yield and CNV distribution differed between prenatal and postnatal analyses, with deletions predominating in prenatal cases and a balanced ratio of deletions to duplications postnatally. The study confirms the high diagnostic utility of aCGH in patients with complex developmental phenotypes and highlights the importance of integrating cytogenetic analysis and periodic genomic data reinterpretation to refine diagnosis and counselling.

Indexed as

Array comparative genomic hybridization (aCGH)Congenital anomaliesCopy number variation (CNV)Genomic diagnosticsNeurodevelopmental disordersRare diseases

Identifiers

PMID42298276

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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.