Frontiers in Genetics | Molecular Cytogenetics

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 Molecular Cytogenetics

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

Frontiers in Genetics

doi 10.3389/fgene.2024.1517270

205 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

997 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

779 views

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

1,119 views

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

900 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

1,239 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

684 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

1,849 views

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

3,578 views

Original Research

Published on 07 Mar 2024

High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients

in Molecular Cytogenetics

Vivian-Pascal Brandt
Heidrun Holland
Matthias Blüher
Nora Klöting

Frontiers in Genetics

doi 10.3389/fgene.2023.1323052

1,412 views

Opinion

Published on 28 Feb 2024

Sometimes karyotype resolves the case!

in Molecular Cytogenetics

Laura Rodríguez
Elena Barros
Jesica Skaarup Murray

Frontiers in Genetics

doi 10.3389/fgene.2024.1371166

1,811 views

Case Report

Published on 23 Feb 2024

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature

in Molecular Cytogenetics

Fatima Ouboukss
Zhour El Amrani
Hicham Bouchahta
Ilham Ratbi
Aziza Sbiti
Thomas Liehr
Abdelaziz Sefiani
Abdelhafid Natiq

Frontiers in Genetics

doi 10.3389/fgene.2024.1331676

2,032 views

Case Report

Published on 06 Feb 2024

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

in Molecular Cytogenetics

Chiara Minotti
Ludovico Graziani
Ester Sallicandro
Maria Cristina Digilio
Roberto Falasca
Viola Alesi
Giuseppe Novelli
Maria Lisa Dentici
Sara Loddo
Antonio Novelli

Frontiers in Genetics

doi 10.3389/fgene.2023.1315291

1,530 views

Brief Research Report

Published on 08 Jan 2024

Small supernumerary marker chromosomes in prenatal diagnosis—molecular characterization and clinical outcomes

in Molecular Cytogenetics

Ivana Joksic
Mina Toljic
Iva Milacic
Andjela Stankovic
Natasa Karadzov Orlic
Zeljko Mikovic

Frontiers in Genetics

doi 10.3389/fgene.2023.1326985

1,410 views

Original Research

Published on 15 Dec 2023

Small supernumerary marker chromosomes derived from human chromosome 11

in Molecular Cytogenetics

Thomas Liehr
Monika Ziegler
Luisa Person
Stefanie Kankel
Niklas Padutsch
Anja Weise
Jörg Paul Weimer
Heather Williams
Susana Ferreira
Joana B. Melo

Frontiers in Genetics

doi 10.3389/fgene.2023.1293652

2,180 views

Original Research

Published on 14 Dec 2023

Clinical application of single nucleotide polymorphism microarray analysis in pregnancy loss in Northwest China

in Molecular Cytogenetics

ShuYuan Xue
LiXia Wang
Jie Wei
YuTong Liu
GuiFeng Ding
PengGao Dai

Frontiers in Genetics

doi 10.3389/fgene.2023.1319624

1,816 views

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Articles

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

High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients

Sometimes karyotype resolves the case!

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Small supernumerary marker chromosomes in prenatal diagnosis—molecular characterization and clinical outcomes

Small supernumerary marker chromosomes derived from human chromosome 11

Clinical application of single nucleotide polymorphism microarray analysis in pregnancy loss in Northwest China