Results 251 to 260 of about 317,190 (282)
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Undetected sex chromosome aneuploidy by chromosomal microarray
Prenatal Diagnosis, 2012ABSTRACTWe report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility
Keren Markus‐Bustani +4 more
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Reinterpretation of Chromosomal Microarrays with Detailed Medical History
The Journal of Pediatrics, 2020To investigate the utility of a detailed medical history in the interpretation of chromosomal microarray results for pediatric patients with a constitutional disease.A retrospective review and reinterpretation of test results from chromosomal microarrays performed from 2011 to 2013.
Midhat S, Farooqi +5 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.
Brynn Levy, Ronald J Wapner
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Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications
Clinics in Laboratory Medicine, 2016Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of ...
Karen, Wou +2 more
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Chromosomal microarray testing influences medical management
Genetics in Medicine, 2011Chromosomal microarray (CMA) testing provides the highest diagnostic yield for clinical testing of patients with developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). Despite improved diagnostic yield and studies to support cost-effectiveness, concerns regarding the cost and ...
Michael E Coulter +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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Prenatal Diagnosis Using Chromosomal SNP Microarrays
2018Chromosomal microarray is a high resolution genomic technology to diagnose genetic conditions associated with losses or gains of the human genome. This technology is currently routinely used in numerous clinical settings, including postnatal diagnosis of disorders with genetic etiologies such as intellectual disability, developmental delay ...
Mythily, Ganapathi +2 more
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Chromosomal microarray in fetuses with increased nuchal translucency
Ultrasound in Obstetrics & Gynecology, 2015ABSTRACTObjectiveTo assess the clinical value of using high‐resolution chromosomal microarray (CMA) for the examination of genomic imbalances in prenatal uncultured chorionic villus samples from fetuses with increased nuchal translucency (NT) and a normal quantitative fluorescent polymerase chain reaction (QF‐PCR) result, in a clinical setting in which
Lund, Ida Charlotte Bay +4 more
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Chromosomal microarray testing
Journal of the American Academy of Physician Assistants, 2012W Andrew, Faucett, Melissa, Savage
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Novel microdeletion syndromes detected by chromosome microarrays
Human Genetics, 2008Array comparative genomic hybridization (array CGH) has revolutionized the cytogenetic testing available for patients with learning disabilities who have "chromosomal" phenotypes with dysmorphic features and multiple anomalies. Screening large patient cohorts with mental retardation by array CGH has recently lead to the characterization of many novel ...
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