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Updated: May 23, 2026
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a
Russell C Dale1, Padraic Grattan-Smith, Michelle Nicholson
1Movement Disorder Clinic, Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia. russell.dale@health.nsw.gov.au
Chromosome microarray (CMA) effectively identifies microdeletions in children with suspected genetic movement disorders. This tool is particularly useful for diagnosing conditions associated with developmental delays and intellectual disabilities, aiding in the discovery of new genetic causes.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Chromosome microarray (CMA) detects copy number variants (CNVs) like microdeletions and microduplications.
- Specific microdeletions in genes such as epsilon-sarcoglycan (SGCE) and thyroid transcription factor-1 (TITF1) are linked to myoclonus dystonia and benign hereditary chorea, respectively.
- The utility of CMA in diagnosing pediatric genetic movement disorders requires further investigation.
Purpose of the Study:
- To evaluate the effectiveness of CMA as a diagnostic tool for children presenting with suspected genetic movement disorders.
- To identify microdeletions associated with various movement disorder phenotypes in pediatric patients.
- To explore the correlation between genetic findings from CMA and associated neurodevelopmental or behavioral issues.
Main Methods:
- Twenty-five pediatric patients with suspected genetic movement disorders were prospectively recruited.
- Diagnostic criteria included a positive family history or specific clinical factors, excluding tic disorders.
- CMA was performed using Agilent aCGH 60K array to detect copy number variations.
Main Results:
- CMA identified microdeletions in seven out of twenty-five patients (28%).
- Four patients had deletions in known movement disorder genes: PRRT2 (n=2), SGCE (n=1), and TITF1 (n=1).
- Three novel microdeletions of potential significance were found, and all seven patients exhibited associated neurodevelopmental or behavioral problems.
Conclusions:
- CMA is a valuable first-tier investigation for pediatric patients with suspected genetic movement disorders, especially when accompanied by intellectual or developmental disabilities.
- Identifying microdeletions through CMA can aid in the discovery of novel genes implicated in movement disorders.
- The presence of neurodevelopmental or behavioral issues alongside movement disorders warrants comprehensive genetic analysis using CMA.
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