chromosomal microarray
High-resolution genetic test that detects submicroscopic chromosomal deletions and duplications. First-line test for developmental delays and congenital anomalies.
Full Definition
A molecular cytogenetic technique that uses DNA probes spotted on glass slides or chips to detect chromosomal imbalances across the entire genome at much higher resolution than traditional karyotyping. Chromosomal microarray can identify copy number variants (CNVs) as small as 25-50 kilobases, making it capable of detecting submicroscopic deletions and duplications that would be missed by conventional chromosome analysis. This technology has become the first-line genetic test for children with unexplained developmental delays, intellectual disabilities, autism spectrum disorders, and multiple congenital anomalies, with a diagnostic yield of approximately 15-20% in these populations.
Usage
Usage note: Distinguish from other microarray technologies used in research settings.
In Context
- "Chromosomal microarray revealed a 2.3 Mb deletion on chromosome 22q11.2 consistent with DiGeorge syndrome." — Genetic testing report
- "Current guidelines recommend chromosomal microarray as first-line testing for children with global developmental delay." — Clinical practice guidelines