Results 1 to 10 of about 56,721 (237)
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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High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
BMC Medical Genomics, 2017 Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours.
Edna Grünblatt +8 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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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? [PDF]
Genetics in Medicine, 2013 Chromosomal microarray analysis enables the detection of microdeletions/duplications and has become the standard in clinical diagnostic testing for individuals with congenital anomalies and developmental disabilities. In the era of genomic arrays, the value of traditional chromosome analysis needs to be reassessed.We studied 3,710 unrelated patients by
Weimin, Bi +11 more
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Microarray Analysis of Rat Chromosome 2 Congenic Strains [PDF]
Hypertension, 2003 Human essential hypertension is a complex polygenic trait with underlying genetic components that remain unknown. The stroke-prone spontaneously hypertensive rat (SHRSP) is a model of human essential hypertension, and a number of reproducible blood pressure regulation quantitative trait loci have been found to map to rat chromosome
Martin W, McBride +8 more
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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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