Evidence map›Paper›PMID 37876589›Full record

ArticleCase reports in genetics2023

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.

Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

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In one paragraph

Article in Case reports in genetics, 2023. 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
0.3field-weighted citation impact, top 28% 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, 1 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

10 authors at 2 institutions in 2 countries.

Luna BajracharyaDepartment of Pediatrics, Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.ORCID https://orcid.org/0000-0001-9601-6944
Meena LallInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.ORCID https://orcid.org/0000-0003-1333-2752
Sunita Bijarnia-MahayInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.ORCID https://orcid.org/0000-0002-5255-8212
Praveen KumarDepartment of Pediatric Neurology, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India.
Imran MushtaqChild Developmental Clinic, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India.
Pushpa SaviourInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Preeti PaliwalInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Anju JoshiInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Shruti AgarwalInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Praveen SumanChild Developmental Clinic, Institute of Child Health, Sir Ganga Ram Hospital, New Delhi, India.
Sir Ganga Ram Hospital · INTribhuvan University Teaching Hospital · NP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. Conclusion: This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.

Identifiers

PMID37876589
PMCPMC10593553
OpenAlexW4387666490

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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.