Results 11 to 20 of about 59,286 (281)

Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

Clinics and Practice, 2016
A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima, Naoki Takeshita, Toshihiko Kinoshita   +2 more
doaj   +2 more sources

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Molecular Cytogenetics, 2018
Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes.
Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan, Murat Erdogan   +5 more
doaj   +2 more sources

Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis

Chinese Medical Journal, 2022
. Background:. Chromosomal abnormalities are important causes of ventriculomegaly (VM). In mild and isolated cases of fetal VM, obstetricians rarely give clear indications for pregnancy termination.
Yan Sun, Weiyuan Zhang, Zhiwen Wang, Likui Guo, Shaowen Shi, Jing Ni   +5 more
doaj   +3 more sources

The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly.
Hong-Lei Duan, Xiang-Yu Zhu, Yu-Jie Zhu, Xing Wu, Guang-Feng Zhao, Wan-Jun Wang, Jie Li   +6 more
doaj   +2 more sources

Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations [PDF]

Molecular Cytogenetics, 2020
Background The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis.
Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong, Shaohua Tang   +6 more
doaj   +3 more sources

Visualization-based discovery and analysis of genomic aberrations in microarray data

BMC Bioinformatics, 2005
Background Chromosomal copy number changes (aneuploidies) play a key role in cancer progression and molecular evolution. These copy number changes can be studied using microarray-based comparative genomic hybridization (array CGH) or gene expression ...
Chen Xing, Myers Chad L, Troyanskaya Olga G   +2 more
doaj   +2 more sources

Comparison of Chromosomal Microarray Analysis and Noninvasive Prenatal Testing in Pregnant Women with Fetal Ultrasonic Soft Markers [PDF]

Risk Management and Healthcare Policy
Xianqing Hu,1 Yanjun Hu,1 Hai Wang,2 Caicha Yu,3 Jiayong Zheng,2 Hongping Zhang,1 Jianqiong Zheng1 1Department of Obstetrics and Gynecology, The Third Clinical Institute Affiliated to Wenzhou Medical University, Wenzhou People’s Hospital, Wenzhou ...
Hu X, Hu Y, Wang H, Yu C, Zheng J, Zhang H, Zheng J   +6 more
doaj   +2 more sources

Application of chromosome microarray analysis in prenatal diagnosis [PDF]

BMC Pregnancy and Childbirth, 2020
Abstract Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately.
Mingjing Xia, Xinhong Yang, Jing Fu, Zhenjuan Teng, Yan Lv, Lixia Yu   +5 more
openaire   +3 more sources

MACAT--microarray chromosome analysis tool [PDF]

Bioinformatics, 2004
By linking differential gene expression to the chromosomal localization of genes, one can investigate microarray data for characteristic patterns of expression phenomena involving sizeable parts of specific chromosomes. We have implemented a statistical approach for identifying significantly differentially expressed chromosome regions.
Joern Toedling, Sebastian Schmeier, Matthias Heinig, Benjamin Georgi, Stefan Roepcke   +4 more
openaire   +3 more sources

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis. [PDF]

BMC Med Genomics, 2023
Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Xie X, Huang B, Su L, Cai M, Chen Y, Wu X, Xu L.   +6 more
europepmc   +2 more sources