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Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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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: Jul 6, 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

Array comparative genomic hybridization in global developmental delay.

M I Shevell1, B A Bejjani, M Srour

  • 1Department of Pediatrics, McGill University, Montreal, Quebec, Canada. michael.shevell@muhc.mcgill.ca

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
|March 26, 2008
PubMed
Summary
This summary is machine-generated.

Array-based comparative genomic hybridization (CGH) identified genetic causes in 6.4% of children with unexplained global developmental delay (GDD). This technology shows diagnostic value for identifying DNA copy number changes in pediatric cases.

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Area of Science:

  • Genetics
  • Pediatrics
  • Genomic Medicine

Background:

  • Global developmental delay (GDD) affects children with undiagnosed neurodevelopmental conditions.
  • Array comparative genomic hybridization (array CGH) is a technology for detecting DNA copy number changes (CNCs).
  • Previous standard genetic tests like karyotyping often yield non-diagnostic results in GDD cases.

Purpose of the Study:

  • To evaluate the diagnostic yield of array CGH in children with unexplained non-syndromal GDD.
  • To identify the prevalence of pathogenic copy number changes in this pediatric cohort.

Main Methods:

  • Array CGH was performed on 94 children with well-defined GDD and non-diagnostic prior testing.
  • Abnormalities were confirmed using fluorescence in situ hybridization (FISH) and parental testing.
  • Clinical factors were analyzed to predict the likelihood of identifying pathogenic CNCs.

Main Results:

  • Array CGH detected a causally related pathogenic CNC in 6.4% (6/94) of the children studied.
  • Three of the identified CNCs were located in sub-telomeric regions.
  • Minor dysmorphic features (<3) were predictive of a positive CGH finding, unlike the severity of developmental delay.

Conclusions:

  • Array CGH offers a 6.4% etiologic yield for children with unexplained non-syndromal GDD.
  • This technology is valuable for diagnosis when used after initial clinical evaluation and targeted testing.
  • Array CGH may be considered a primary diagnostic tool for unexplained GDD in children.