Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities [PDF]
Frontiers in GeneticsObjectiveChromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal ...
Xiaoqin Xin
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Application of chromosome microarray analysis in prenatal diagnosis [PDF]
BMC Pregnancy and Childbirth, 2020 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
Mingjing Xia +5 more
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The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses [PDF]
International Journal of Women's HealthHuifang Liu,1 Wei Wang,1 Zhaoling Zhu,2 Bo Zhang,1 Li Wang11Institute of Genetics, Henan Provincial People’s Hospital, Zhengzhou, Henan, 450003, People’s Republic of China; 2Department of Ultrasound, Henan Provincial People’s Hospital, Zhengzhou, Henan ...
Liu H, Wang W, Zhu Z, Zhang B, Wang L
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Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis [PDF]
Molecular Cytogenetics, 2019 Background This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype ...
Huili Xue +6 more
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Chromosome microarray analysis in the investigation of children with congenital heart disease [PDF]
BMC Pediatrics, 2017 Background Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
Xiao-li Wu +8 more
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Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature [PDF]
Movement Disorders Clinical Practice, 2023 Luca Soliani, Darío Ortigoza-Escobar
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Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations [PDF]
Genes, 2023 Ruibin Huang, You Wang
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Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report [PDF]
Journal of Yeungnam Medical Science, 2023 Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain ...
Jeong A Ham, Sung Hyun Kim, Donghwi Park
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Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders [PDF]
Neuroscience Bulletin, 2018 Ting Zhang, Fei Li, Juan Geng
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A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
Clinical Case Reports, 2022 Here we report a case of a 16q24.3 microdeletion KBG syndrome (KBGS) in a fetus. The absence of a well‐defined phenotype poses a challenge for genetic diagnosis.
Tianqin Deng +4 more
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