Frontiers in Genetics | Cytogenomics

Original Research

Published on 09 Jan 2026

The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing

in Cytogenomics

Shaozhe Yang
Hewei Zhang
Yongli Wang
Qingwei Zhang
Yongyong Wu
Xiuhong Fu
Rongxiang Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1750362

512 views

Original Research

Published on 29 Oct 2025

LDLRAD4 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in myelodysplastic syndromes

in Cytogenomics

Mengjie Xu
Shihao Wu
Kaixiang Zhang
Lirong Nie
Qinghua Li
Jihong Zhong
Yuming Zhang
Honghua He

Frontiers in Genetics

doi 10.3389/fgene.2025.1540161

1,613 views

Original Research

Published on 22 Oct 2025

S100A10 knockdown exacerbates phenylephrine-induced cardiomyocyte hypertrophy via modulating mitochondrial oxidative phosphorylation

in Cytogenomics

Feixue Xu
Yajie Chen
Man Xu
Dan Li
Yinshan Lu
Meng Zhang
Jiahao Li
Wanyi Li
Yingying Guo

Frontiers in Genetics

doi 10.3389/fgene.2025.1610008

1,756 views
1 citation

Original Research

Published on 20 Oct 2025

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

in Cytogenomics

Tingting Ge
Xiaojuan Lin
Xinyuan Tian
Xiaoyu Song
Bingbo Zhou
Ling Hui
Xiaozhuan Wang
Zhiqiang Zhang
Chuan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1640775

1,598 views

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

4,089 views
1 citation

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

3,610 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

3,351 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

3,035 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

2,842 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

2,625 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

2,504 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

2,812 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

3,085 views
1 citation

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

3,009 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

2,253 views
1 citation

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

3,843 views
3 citations

Original Research

Published on 15 Oct 2024

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

in Cytogenomics

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

Frontiers in Genetics

doi 10.3389/fgene.2024.1486974

4,306 views
3 citations

Case Report

Published on 19 Sep 2024

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

in Cytogenomics

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

Frontiers in Genetics

doi 10.3389/fgene.2024.1436462

2,767 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 Cytogenomics

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

Frontiers in Genetics

doi 10.3389/fgene.2024.1448341

3,491 views
2 citations

Case Report

Published on 18 Jul 2024

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

in Cytogenomics

Rong Hua Wang
Ke Wu
Xiao Ling Hu

Frontiers in Genetics

doi 10.3389/fgene.2024.1436469

2,234 views

Original Research

Published on 04 Jul 2024

Unraveling chromosomal and genotoxic damage in individuals occupationally exposed to coal from underground mining

in Cytogenomics

María Yolanda Buitrago-Rodríguez
Nelson Rangel
Juan D. Vega-Valderrama
Martín Pulido-Medellín
Milena Rondón-Lagos

Frontiers in Genetics

doi 10.3389/fgene.2024.1422938

2,912 views
1 citation

Editorial

Published on 17 Apr 2024

Editorial: Co-occurrence of numerical and structural aberration—small supernumerary marker chromosomes and B-chromosomes

in Cytogenomics

Thomas Liehr

Frontiers in Genetics

doi 10.3389/fgene.2024.1408674

1,582 views

Original Research

Published on 16 Apr 2024

Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism

in Cytogenomics

M. P. Navarrete-Meneses
I. Ochoa-Mellado
R. Gutiérrez-Álvarez
D. Martínez-Anaya
U. Juárez-Figueroa
C. Durán-McKinster
E. Lieberman-Hernández
E. Yokoyama-Rebollar
S. Gómez-Carmona
V. Del Castillo-Ruiz

Frontiers in Genetics

doi 10.3389/fgene.2024.1356786

4,432 views
1 citation

Original Research

Published on 11 Mar 2024

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

in Cytogenomics

T. V. Karamysheva
I. N. Lebedev
L. I. Minaycheva
L. P. Nazarenko
A. A. Kashevarova
D. A. Fedotov
N. A. Skryabin
M. E. Lopatkina
A. D. Cheremnykh
E. A. Fonova

Frontiers in Genetics

doi 10.3389/fgene.2024.1331066

6,719 views

35 articles

articles

The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing

LDLRAD4 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in myelodysplastic syndromes

S100A10 knockdown exacerbates phenylephrine-induced cardiomyocyte hypertrophy via modulating mitochondrial oxidative phosphorylation

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

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

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

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities

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

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

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

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

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

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

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

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

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

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

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

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

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

Unraveling chromosomal and genotoxic damage in individuals occupationally exposed to coal from underground mining

Editorial: Co-occurrence of numerical and structural aberration—small supernumerary marker chromosomes and B-chromosomes

Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication