Evidence map›Paper›PMID 41245691›Full record

ArticleClinical case reports2025

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH.

Laura M Bryant, Rose Hokanson, Scott E Hickey, Bianca Zapanta, Jesse Hunter, Shalini C Reshmi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Laura M BryantThe Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.ORCID https://orcid.org/0000-0001-8483-8940
Rose HokansonDepartment of Pediatrics, Section of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.
Scott E HickeyDepartment of Pediatrics, Section of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.
Bianca ZapantaDepartment of Pediatrics, Section of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.
Jesse HunterThe Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.
Shalini C ReshmiThe Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

While the standard diagnostic test for suspected 22q copy number disorders is by chromosomal microarray, this case highlights the importance of utilizing FISH to localize allelic copy number when there is a family history of deletion/duplication syndrome for accurate recurrence risk assessment.

Indexed as

22q deletion22q duplicationchromosomal microarrayFISH

Identifiers

PMID41245691
PMCPMC12618199

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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 OpenQuestion graph.