Evidence map›Paper›PMID 39152134›Full record

ArticleHuman genome variation2024

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. 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. Review
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.

Keiko Shimojima YamamotoDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.ORCID http://orcid.org/0000-0003-2362-3844
Sakurako YamamotoDepartment of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, 183-0042, Japan.
Taichi ImaizumiDepartment of Pediatrics, St. Marianna University School of Medicine, Kawasaki, 216-8511, Japan.
Satoko KumadaDepartment of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, 183-0042, Japan.
Toshiyuki YamamotoInstitute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.ORCID http://orcid.org/0000-0002-9484-3505

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.

Identifiers

PMID39152134
PMCPMC11329761

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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.