Evidence map›Paper›PMID 40110042›Full record

ArticleFrontiers in genetics2025

Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication.

Cuiting Peng, Han Chen, Fan Zhou, Hong Yang, Yutong Li, Yuezhi Keqie, Xu Zhao, He Wang, Ting Hu, Shanling Liu and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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

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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

12 authors.

Cuiting PengDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Han ChenDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Fan ZhouDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Hong YangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Yutong LiDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Yuezhi KeqieDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Xu ZhaoDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
He WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Ting HuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Shanling LiuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Jun RenDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Xinlian ChenDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As the development of molecular diagnostic methods, a large number of clinically relevant or disease-related copy number variations (CNVs) could be detected, and the demand for genetic counselling and clinical treatment is also increasing. For patients with pathogenic or likely pathogenic CNVs, preimplantation genetic testing (PGT) could provide a feasible path to prevent the inheritance of the genetic disorder in the offspring. In this study, we included a couple with 1q21.1 recurrent microduplication to conduct molecular diagnosis and PGT clinical application. The optical genome mapping (OGM) successfully verified the orientation and location of the microduplication, which further proved OGM as a promising approach for chromosomal anomalies detection with high resolutions. In PGT application, linkage-analysis-based PGT and high resolution PGT-A were simultaneously conducted for the pedigree and all the embryos. The results were consistent between linkage analysis and high resolution aneuploid analysis in the targeted region. One embryo that was absent of paternal 1q21.1q21.2 duplication was selected for further transplantation. This successful clinical practice in this study shed light for future molecular diagnosis and PGT application in tandem microduplications.

Indexed as

MARSALAmicroduplicationnext-generation sequencingoptical genome mappingpreimplantation genetic testing

Identifiers

PMID40110042
PMCPMC11919917

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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.