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Related Concept Videos

Karyotyping01:17

Karyotyping

Overview
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
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 31, 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

What can we learn from old microdeletion syndromes using array-CGH screening?

A L Mosca-Boidron1, S Bouquillon, L Faivre

  • 1Département de Génétique, Laboratoire de Cytogénétique, Plateau Technique de Biologie, 2 rue Angelique Ducoudray, Dijon Cedex, France. anne-laure.mosca-boidron@chu-dijon.fr

Clinical Genetics
|July 5, 2011
PubMed
Summary
This summary is machine-generated.

Array-comparative genomic hybridization (array-CGH) reveals that common microdeletion syndromes, like DiGeorge and Williams-Beuren, present with broader and more varied symptoms than previously understood. This highlights the importance of genetic testing over clinical diagnosis for these complex genomic disorders.

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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

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Area of Science:

  • Genetics
  • Genomic Medicine
  • Clinical Diagnostics

Background:

  • Microdeletion syndromes were previously considered well-defined entities before advanced genetic screening.
  • Whole-genome screening technologies have expanded the understanding of known syndromes and identified new ones.

Purpose of the Study:

  • To investigate the utility of array-comparative genomic hybridization (array-CGH) in diagnosing patients with atypical presentations of microdeletion syndromes.
  • To assess the phenotypic variability within well-established microdeletion syndromes.

Main Methods:

  • Analysis of 10 patients with mental retardation, atypical features, and normal standard karyotypes.
  • Application of array-comparative genomic hybridization (array-CGH) for whole-genome screening.

Main Results:

  • Array-CGH identified five microdeletions in the DiGeorge region, three in the Williams-Beuren region, and two in the Smith-Magenis region.
  • Clinical reevaluation confirmed diagnostic challenges based solely on phenotype.
  • The study demonstrated significant phenotypic heterogeneity for known microdeletion syndromes.

Conclusions:

  • Genomic disorders exhibit more variable phenotypes than initially recognized.
  • Array-CGH is crucial for accurate diagnosis, often surpassing clinical assessment for complex cases.
  • Genotype-based diagnosis is increasingly important for identifying patients with microdeletion syndromes.