Frontiers in Genetics | Cytogenomics

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

708 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

1,199 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

1,156 views

Original Research

Accepted on 13 May 2025

Intrauterine ultrasound phenotyping, molecular characteristics and postnatal follow-up of fetuses with the 1q21.1 microdeletion/microduplication syndrome: a single-center, retrospective clinical study and review of the literature

in Molecular Cytogenetics

Ting Liu
Fuyan Liu
Xiaohang Hu
Liqing Jiang
Yanxiang Bai
Huan Guo

Frontiers in Genetics

doi 10.3389/fgene.2025.1568225

164 views

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

1,204 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

1,317 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

1,042 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

1,931 views

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

2,187 views

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

1,679 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

2,161 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

1,400 views

Original Research

Published on 04 Jul 2024

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

in Molecular Cytogenetics

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

1,806 views

Editorial

Published on 17 Apr 2024

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

in Molecular Cytogenetics

Thomas Liehr

Frontiers in Genetics

doi 10.3389/fgene.2024.1408674

1,027 views

Original Research

Published on 16 Apr 2024

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

in Molecular Cytogenetics

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

2,756 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 Molecular Cytogenetics

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

4,838 views