Frontiers in Genetics | Cytogenomics

Original Research

Published on 25 Aug 2025

Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping

in Cytogenomics

Xiaoxi Zhu
Huiling Zheng
Xue Wan
Hang Duan
Ying Qi
Weijia Tang
Fan Yang
Limei Yu

Frontiers in Genetics

doi 10.3389/fgene.2025.1605461

994 views

Original Research

Published on 23 Jul 2025

Identification of key genes associated with infertile endometriosis based on bioinformatic analysis

in Cytogenomics

Linlin Chang
Hongjuan Ye
Min Hou
Xin Xie
Yang Wang
Jie Cheng
Rongxiang Wang
Xiaocong Chen
Xinxin Quan
Lihua Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1615268

1,404 views

Original Research

Published on 25 Jun 2025

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities

in Cytogenomics

Yun Guo
Xiaoqin Xin
Linju Zhou
Jungao Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1611388

1,356 views

Original Research

Published on 23 Jun 2025

Directional genomic hybridization (dGH™) identifies small inverted duplications in situ

in Cytogenomics

Thomas Liehr
Erin Cross
Stefanie Kankel

Frontiers in Genetics

doi 10.3389/fgene.2025.1604822

1,505 views

Original Research

Published on 23 Jun 2025

Uncovering genetic contributors to developmental delay and intellectual disability: a focus on CNVs in pediatric patients

in Cytogenomics

Yilun Tao
Hongzhi Guo
Dong Han
Miao Yang
Ting Lun
Lihong Wang
Wenxia Song
Haiwei Wang
Xiaoze Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1539902

1,387 views

Systematic Review

Published on 11 Jun 2025

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

in Cytogenomics

Mengting Jiang
Bin Zhang
Jing Wang
Cui Wei
Xiuzhen Mao
Bin Yu

Frontiers in Genetics

doi 10.3389/fgene.2025.1502538

1,515 views

Original Research

Published on 30 May 2025

Hapten-labeled DNA probes can be stored and used in fluorescence in situ hybridization for decades

in Cytogenomics

Thomas Liehr
Niklas Padutsch
Stefanie Kankel

Frontiers in Genetics

doi 10.3389/fgene.2025.1569308

1,647 views

Case Report

Published on 22 May 2025

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

in Cytogenomics

Xiaohang Hu
Jing Guo
Haiyang Sang
Jinyan Yan
Hong Chang
Ting Liu
Haixin Dong
Min Kong
Yanjun Tian
Liqing Jiang

Frontiers in Genetics

doi 10.3389/fgene.2025.1555485

1,671 views
1 citation

Case Report

Published on 06 May 2025

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype

in Cytogenomics

Guoxing Zhong
Jiajia Wu
Zeyan Zhong
Dina Chen
Zhiyang Guan
Shaohui Huang
Jianhong Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1546579

1,967 views

Original Research

Published on 25 Mar 2025

Karyotype and genome size analyses for two spiders of the lycosidae family

in Cytogenomics

Yuxuan Zhang
Mengying Zhang
Liang Leng
Ya Wu
Hanting Yang
Liangting Wang
Baimei Liu
Shuai Yang
Zizhong Yang
Shilin Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1544087

1,976 views

Case Report

Published on 05 Mar 2025

Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review

in Cytogenomics

Yuying Zhu
Ke Wu
Cuicui Jiang
Qiumin Zhu

Frontiers in Genetics

doi 10.3389/fgene.2025.1544565

1,353 views

Original Research

Published on 13 Jan 2025

Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies

in Cytogenomics

Jia-pei Liu
Shan-Bing Wang
Li Luo
Ya-mei Guo

Frontiers in Genetics

doi 10.3389/fgene.2024.1517270

2,553 views
2 citations

Original Research

Published on 15 Oct 2024

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome

in Molecular Cytogenetics

Yan Zhao
Lina Song
Shuxia Zhang
Fei Hou
Shan Shan
Hua Jin

Frontiers in Genetics

doi 10.3389/fgene.2024.1486974

2,812 views
3 citations

Case Report

Published on 19 Sep 2024

Case report: A novel FBXW7 gene variant causes global developmental delay

in Molecular Cytogenetics

Yu Wang
Xiaoping Ma
Hua Li
Yanrui Dai
Xiaochen Wang
Li Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1436462

2,013 views
2 citations

Original Research

Published on 29 Aug 2024

Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature

in Molecular Cytogenetics

Lei Liu
Tingying Lei
Fei Guo
Chunling Ma
Li Zhen
Lina Zhang
Dongzhi Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1448341

2,446 views
1 citation

Case Report

Published on 18 Jul 2024

Prenatal diagnosis of dicentric chromosome X mosaicism: a case report and review

in Molecular Cytogenetics

Rong Hua Wang
Ke Wu
Xiao Ling Hu

Frontiers in Genetics

doi 10.3389/fgene.2024.1436469

1,647 views