Abstract
Chromosomal imbalances are a significant cause of congenital disorders. Microarray-based comparative genomic hybridization, also known as chromosomal microarray (CMA), is a relatively new technology that can identify microscopic and submicroscopic chromosomal imbalances. We report the case of a 12-year-old boy with multiple congenital abnormalities referred for cytogenetic and CMA evaluation. The patient had developmental delay, microcephaly, bilateral iris colobomas, ventricular septal defect, …
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