Evidence map›Paper›PMID 42125343›Full record

ArticleMolecular syndromology2026

Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report.

Ramazan Keçeci, Hayriye Nermin Keçeci, Melek Büyükeren, Fatma Hilal Yılmaz, Beyza Özcan

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 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

5 authors.

Ramazan KeçeciDivision of Neonatology, Department of Pediatrics, Konya City Hospital, University of Health Science, Konya, Turkey.
Hayriye Nermin KeçeciDivision of Pediatric Genetics, Department of Pediatrics, Konya City Hospital, University of Health Science, Konya, Turkey.
Melek BüyükerenDivision of Neonatology, Department of Pediatrics, Konya City Hospital, University of Health Science, Konya, Turkey.
Fatma Hilal YılmazDivision of Neonatology, Department of Pediatrics, Konya City Hospital, University of Health Science, Konya, Turkey.
Beyza ÖzcanDivision of Neonatology, Department of Pediatrics, Konya City Hospital, University of Health Science, Konya, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Chromosome 2p21 harbors Case Presentation: A female neonate born at 27 weeks (1,000 g) after placental abruption was diagnosed with distinguishable craniofacial features, alobar HPE, agenesis of the corpus collosum (ACC), and a 6-mm atrial septal defect. Chromosomal microarray analysis revealed a heterozygous 11.3 Mb interstitial deletion at arr[GRCh38] 2p21p16.2(43075433_54379379)x1, containing entire Conclusion: The patient's phenotype is consistent with

Indexed as

2p21p16.2 deletionAtrial septal defectChromosomal microarrayHoloprosencephalyLynch syndrome

Identifiers

PMID42125343
PMCPMC13160559

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.