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Andrologia, 2022
Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications).
Şenol Çitli +2 more
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Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is still unclear. Chromosomal microarrays are widely used to detect sub chromosomal abnormalities (e.g., microdeletions and microduplications).
Şenol Çitli +2 more
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Chromosomal microarray analysis in ocular developmental anomalies
Expert Review of Molecular Diagnostics, 2012Ocular developmental anomalies (ODAs) are structural defects of the eye with vari-ous severities, caused by the disruption of the complex process of ocular morpho-genesis. Although the reported prevalence at birth varies greatly, congenital eye mal-formations are rare; they are estimated to occur in four to six per 10,000 neonates in European ...
Andrée, Delahaye +2 more
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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis
Obstetrics and Gynecology Clinics of North America, 2018Chromosomal microarray analysis (CMA) identifies microdeletions and duplications undetected on karyotype analysis. Copy number variants (CNVs) occur in 1% to 1.7% of all pregnancies, with clinical implications. All women undergoing invasive testing for routine indications should be offered microarray.
Melissa, Stosic +2 more
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Current Protocols in Human Genetics, 2012
AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy, Breman, Ankita, Patel
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AbstractChorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic methods and the resulting cell suspension is used to establish primary cultures. Mesenchymal cells of the villus
Amy, Breman, Ankita, Patel
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Chromosomal microarray analysis in pregnancies at risk for a molecular disorder
The Journal of Maternal-Fetal & Neonatal Medicine, 2019Objective: The aim of this study was to evaluate the utility of chromosomal microarray (CMA) in patients who were solely referred for molecular diagnosis.Methods: During a 2-year period, CMA was the patients' choice, whether to opt for it or not, for those at risk for fetal hemoglobin Bart's disease or β-thalassemia major who were referred for invasive
Dong-Zhi, Li, Hai-Shen, Tang
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Chromosomal microarray analysis of patients with Duane retraction syndrome
International Ophthalmology, 2018Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal ...
Leyla Niyaz +7 more
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Clinical Application of Chromosome Microarray Analysis in the Diagnosis of Lipomatous Tumors
Applied Immunohistochemistry & Molecular Morphology, 2021Well-differentiated liposarcoma/atypical lipomatous tumor (WDLS/ALT) and dedifferentiated liposarcoma (DDLS) have characteristic supernumerary ring and giant marker chromosomes involving the chromosomal region 12q13-15 which contains MDM2 (12q15), CDK4 (12q14.1), HMGA2 (12q14.3), YEATS4 (12q15), CPM (12q15), and FRS2 (12q15).
Jianming, Pei +5 more
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Ascertainment of Recurrent Translocations by Chromosomal Microarray Analysis
Cancer Genetics, 2012s 421 Detection and characterization of recurrent translocations play an important role in the diagnosis and treatment of hematological disorders. Chromosomal microarray analysis (CMA) is a powerful tool to detect copy number changes in hematological disorders.
Guangyu Gu +5 more
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Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome
Cytogenetic and Genome Research, 2019Williams-Beuren Syndrome (WBS; OMIM #194050) is a rare neurodevelopmental disorder that results from a deletion at 7q11.23 spanning 25-27 genes. We performed chromosomal microarray analysis (CMA) in 9 Taiwanese patients with WBS to confirm the diagnosis. These samples had already been examined by FISH and diagnosed as WBS.
Haung-Tsung, Kuo +4 more
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[Chromosomal microarray analysis for the causes of miscarriage or stillbirth].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020To assess the value of chromosomal microarray analysis (CMA) for the analysis of 824 samples from miscarriage or stillbirth.Copy number variations (CNVs) in the abortic chorionic villi or stillbirth tissues were detected by CMA.All specimens were successfully analyzed, among which 381 (46.2%) were diagnosed with chromosomal abnormalities, which ...
Yanhua, Xiao +5 more
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