Evidence map›Paper›PMID 41495643›Full record

ArticleBMC genomics2026

Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR.

Tingting Zheng, Dehua Cheng, Yuxia Yang, Sijia Lu, Huiying Li, Liangqun Xie, Qinhua Li, Hong Ye

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC genomics, 2026. 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.

Tingting ZhengDepartment of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, 183YilingSt, Yichang, Hubei, 443003, P.R. China.
Dehua ChengReproductive and Genetic Hospital CITIC Xiangya, Changsha, Hunan, People's Republic Of China.
Yuxia YangYikon Genomics Suzhou co ltd, Suzhou, Jiangshu, People's Republic Of China.
Sijia LuYikon Genomics Suzhou co ltd, Suzhou, Jiangshu, People's Republic Of China.
Huiying LiDepartment of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, 183YilingSt, Yichang, Hubei, 443003, P.R. China.
Liangqun XieDepartment of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, 183YilingSt, Yichang, Hubei, 443003, P.R. China.
Qinhua LiDepartment of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, 183YilingSt, Yichang, Hubei, 443003, P.R. China.
Hong YeDepartment of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, 183YilingSt, Yichang, Hubei, 443003, P.R. China. yehong0527@163.com.

Funding

Hubei Province Association of Pathophysiology 2025HBAP018Natural Science Foundation of Hubei Province of China 2024AFB845
6 · The paper itself

Abstract

objectiveThis study completed the karyotyping of a patient with a complex chromosomal insertion and identified the location of the breakpoint for implementing preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) to differentiate between normal and carrier embryos, aiming to assess the clinical outcome of PGT-SR in couples with complex chromosome rearrangements (CCRs).

methodThe Chromosome conformation based Karyotyping technique (C-Moka) was implemented to identify karyotypes and analyze chromosomal breakpoints, with subsequent verification of karyotype results by fluorescence in situ hybridization (FISH). Whole genome sequencing (WGS) of embryos followed by copy number variation and second-generation sequencing (NGS) based single nucleotide polymorphism (SNP) haplotyping to discriminate between normal and carrier embryos were carried out in PGT-SR cycles.

resultsBased on the precise breakpoint sequences identified by C-Moka, mapping allele with resolved carrier status (MaReCs) was used to distinguish a normal embryo from a carrier embryo among two balanced euploidy embryos, resulting in the birth of a healthy baby after transfer of the normal embryo.

conclusionThis case demonstrates the feasibility of C-Moka technique in assisting CCRs diagnosis and directly identifying breakpoints to construct haplotypes without family lineage or reference embryo pre-tests.

Indexed as

Chromosome AberrationsKaryotypingPreimplantation DiagnosisAdultChromosome BreakpointsDNA Copy Number VariationsFemaleHigh-Throughput Nucleotide SequencingHumansIn Situ Hybridization, FluorescenceMalePolymorphism, Single NucleotidePregnancyWhole Genome SequencingChromosome conformation-based karyotypingComplex chromosomal insertionComplex chromosomal rearrangementsMapping allele with resolved carrier statusPreimplantation genetic testing for chromosomal structural rearrangements

Identifiers

PMID41495643
PMCPMC12829099

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.