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Related Concept Videos

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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Updated: Jun 6, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Microarray analysis in children with developmental disorder or epilepsy.

Herbert Ezugha1, Carol E Anderson, Harold G Marks

  • 1Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania 19134, USA.

Pediatric Neurology
|November 25, 2010
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray analysis is a valuable tool for diagnosing genetic disorders in children. This study found that abnormal results were more common in children with multiple clinical symptoms, suggesting its utility in pediatric neurodevelopmental evaluations.

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Area of Science:

  • Pediatric Genetics
  • Medical Diagnostics
  • Genomic Medicine

Background:

  • Chromosomal microarray analysis (CMA) is an emerging technique for detecting genetic imbalances.
  • Its diagnostic utility in pediatric populations is still being established.
  • This study evaluates the experience with CMA in a pediatric clinical setting.

Purpose of the Study:

  • To assess the diagnostic yield of chromosomal microarray analysis in children with neurodevelopmental disorders and epilepsy.
  • To identify clinical factors associated with abnormal CMA findings.
  • To evaluate the role of CMA as a first-tier genetic test in pediatrics.

Main Methods:

  • Retrospective chart review of 82 children undergoing CMA between 2006-2009.
  • Data collected included demographics, clinical variables (e.g., developmental delay, epilepsy), and CMA results.
  • Statistical analysis included chi-squared tests and logistic regression.

Main Results:

  • CMA identified genetic abnormalities in 23.5% of pediatric patients with normal karyotypes.
  • Deletions accounted for 74% of detected abnormalities.
  • A higher incidence of abnormal CMA findings (30.5%) was observed in patients with four or more clinical variables compared to those with three or fewer (8.7%).
  • Motor impairment and epilepsy were independent predictors of abnormal CMA results.

Conclusions:

  • Chromosomal microarray analysis is an effective diagnostic tool for identifying genetic imbalances in children with neurodevelopmental disorders.
  • The number of clinical abnormalities correlates with the likelihood of detecting a genetic imbalance.
  • CMA is poised to become a primary genetic diagnostic test for pediatric neurodevelopmental conditions and epilepsy.