Results 41 to 50 of about 54,834 (268)
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 +5 more
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Molecular Cytogenetics, 2021 Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17 ...
Zhanna G. Markova +3 more
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Molecular Cytogenetics, 2022 Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism ...
Wenjuan Tang +3 more
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Chromosomal microarray analysis in prenatal diagnosis
Clinical and Experimental Obstetrics & Gynecology, 2017 Genome copy number variation (CNV) is an important cause of genetic and developmental disorders. In recent years, chromosomal microarray analysis (CMA) technology to test for genomic copy number variation has been developed and gradually applied in prenatal diagnostics, offering high diagnostic ability.
Yingjun Xie, Xiaofang Sun
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Clinical and Experimental Obstetrics & Gynecology, 2020 We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy.
D. Lu, D. Cao, Q. Zhao, X. Chen
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Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil. [PDF]
PLoS ONE, 2014 Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous.
Rodrigo Roncato Pereira +9 more
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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 +2 more
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Indonesian Journal of Obstetrics and Gynecology, 2022 Objective : To perform chromosomal microarray when similar case was found. Methods: Case report Case : G1P0A0, 20 years-old, 23-24 weeks gestation, normal BMI, was diagnosed by ultrasonography with multiple congenital anomaly consisted by ...
Sefty M. Samosir +3 more
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The impact of chromosomal microarray on clinical management: a retrospective analysis [PDF]
Genetics in Medicine, 2014 Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental delay, intellectual disability, and autism spectrum disorders. Although chromosomal microarray has been extensively shown to provide a higher diagnostic yield than conventional cytogenetic methods, some health
Julie Hoover-Fong +5 more
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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Jornal de Pediatria (Versão em Português), 2015 Objectives: Clinical use of microarray‐based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first‐tier test. This study reports the first experience in
Guillermo Lay‐Son +5 more
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