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Related Concept Videos

Karyotyping01:17

Karyotyping

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Karyotyping01:17

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DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Related Experiment Video

Updated: May 25, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

High resolution array in the clinical approach to chromosomal phenotypes.

Isabel Filges, Luzia Suda, Peter Weber

    Gene
    |January 14, 2012
    PubMed
    Summary

    High-resolution array genomic hybridization (AGH) detects copy number variants (CNVs) in developmental disorders. This study found AGH useful for identifying pathogenic CNVs, aiding clinical diagnosis and genetic counseling.

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    Published on: February 6, 2012

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    Last Updated: May 25, 2026

    Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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    Published on: February 21, 2015

    Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
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    Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
    06:25

    Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

    Published on: February 6, 2012

    Area of Science:

    • Genetics
    • Clinical Diagnostics
    • Genomic Medicine

    Background:

    • Array genomic hybridization (AGH) is a diagnostic tool for submicroscopic copy number variants (CNVs) in developmental disorders.
    • Lack of consensus exists on optimal AGH platforms, resolution, and CNV interpretation strategies.
    • Systematic implementation of high-resolution arrays in clinical settings requires evaluation.

    Purpose of the Study:

    • To evaluate the clinical diagnostic utility of high-resolution AGH (up to 100 kb).
    • To determine the detection rate of pathogenic CNVs and CNVs of unknown significance.
    • To assess the challenges in systematic interpretation of CNVs in a clinical setting.

    Main Methods:

    • Applied high-resolution AGH to 131 patients with chromosomal phenotypes and normal karyotypes.
    • Prioritized phenotype-genotype correlation for CNV interpretation based on established criteria.
    • Evaluated detection rates and clinical significance of identified CNVs.

    Main Results:

    • Identified 33 (25.2%) potentially pathogenic aberrations.
    • Confirmed 16 pathogenic aberrations (16.4% syndromic, 8.5% non-syndromic), including novel and inherited variants.
    • Classified 13 of 16 CNVs of unknown significance as likely benign; 3 remained unclear.

    Conclusions:

    • High-resolution AGH detects pathogenic aberrations in 12.2% of cases in a diagnostic setting.
    • Detection of small causal CNVs is clinically relevant for family counseling, even if rare.
    • Phenotype-genotype correlation remains crucial for challenging CNV interpretation in clinical practice.