Evidence map›Paper›PMID 40044118›Full record

ArticleHuman molecular genetics2025

Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.

Lu Wan, Zeng Baitao, Tan Yuxin, Chen Zhongfa, Zhou Jihui, Huang Ning, Yang Bicheng, Huang Shuhui, Liu Yanqiu, Yuan Huizhen

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

Article in Human molecular genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Lu WanMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.ORCID 0000-0001-8939-3004
Zeng BaitaoMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.ORCID 0009-0007-8096-2398
Tan YuxinMaternal and Child Health Affiliated Hospital of Nanchang University, #461 Bayi Road, Donghu District, Nanchang, Jiangxi 330006, China.
Chen ZhongfaMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Zhou JihuiMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Huang NingMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Yang BichengMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Huang ShuhuiMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Liu YanqiuMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.
Yuan HuizhenMedical Genetic Center, Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control, Jiangxi Maternal and Child Health Hospital, #508 Xizhan Street, Honggutan District, Nanchang, Jiangxi 330006, China.

Funding

Jiangxi Provincial Clinical Research Center for Birth Defects 20223BCG74002Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control 2024SSY06201Provincial Health Commission Program of Jiangxi 202410426
6 · The paper itself

Abstract

objectiveThis study was aimed to identify a rare complex rearrangement and assist prenatal counseling.

methodMate-pair sequencing (MPseq) combined with karyotypes, copy number variants sequencing and whole exome sequencing was used to provide accurate chromosome breakpoints and assist prenatal diagnosis for a mentally retarded pregnant woman.

resultMPseq indicated a complex rearrangement involved 25 breakpoints and fusions, disrupting 6 genes. Among which, ZMIZ1 was associated with neurodevelopmental disorders with dysmorphic facies and distal skeletal abnormalities, which was consistent with the phenotype of pregnant women.

conclusionMPseq was a cost-effective and accurate method that could be used as a complementary tool for human genetic diagnosis and prenatal counseling.

Indexed as

Genetic CounselingIntellectual DisabilityPrenatal DiagnosisAdultChromosome AberrationsDNA Copy Number VariationsExome SequencingFemaleGene RearrangementHeterozygoteHigh-Throughput Nucleotide SequencingHumansPregnancyTranscription FactorsTranscription Factorscomplex chromosomal rearrangementgenetic consultingmate-pair sequencingprenatal diagnosis

Identifiers

PMID40044118
PMCPMC12056311

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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.