Evidence map›Paper›PMID 40447572›Full record

ArticleHuman genome variation2025

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.

Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori, Masahide Goto, Toshihiro Tajima, Aiko Sasaki, Takayoshi Matsumura, Takanori Yamagata

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 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

8 authors.

Hiroko WakabayashiDivision of Clinical Trial, Clinical Investigation Center, Jichi Medical University Hospital, Tochigi, Japan.
Ayumi MatsumotoDivision of Cardiovascular and Genetics Research, Center for Molecular Medicine, Jichi Medical University, Tochigi, Japan. ayumidct@jichi.ac.jp.ORCID http://orcid.org/0000-0002-0394-2541
Sakiko KomoriDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Masahide GotoDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Toshihiro TajimaDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Aiko SasakiDivision of Obstetrics, Center for Maternal-Fetal, Neonatal and Reproductive Medicine, Center for Medical Genetics, National Center for Child Health and Development, Setagaya, Japan.
Takayoshi MatsumuraDivision of Cardiovascular and Genetics Research, Center for Molecular Medicine, Jichi Medical University, Tochigi, Japan.ORCID http://orcid.org/0000-0003-3394-9506
Takanori YamagataDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.ORCID http://orcid.org/0000-0002-3961-9922

Funding

Japan Agency for Medical Research and Development (AMED) 24FC1003Wellcome Trust FC001003
6 · The paper itself

Abstract

Here we report a patient with holoprosencephaly (HPE) associated with 45, XY,der(18)t(18;21)(p11.2;q21.3),-21 derived from a paternal balanced reciprocal translocation. Array comparative genomic hybridization analysis revealed 18p11.32-p11.21 and 21q11.2-q21.3 deletions. So far, nine cases of monosomy 18p with an unbalanced translocation (18;21) have been reported, four of which presented with HPE. Our case provides a detailed long-term clinical course and helps us to better understand these rare genetic events.

Identifiers

PMID40447572
PMCPMC12125312

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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.