Application of Microarrays in patients with cytogenetic rearrangements

Microarray provides extraordinary accuracy and precision for defining chromosomal imbalances)Study published in Nature – Genetics


This is one of the earliest studies describing the application of microarrays for improved clinical diagnostics of constitutional chromosome abnormalities. The study not only serves to validate the use microarray method in clinical diagnostics but also illustrates the extraordinary precision available to define chromosomal imbalances using microarray. The microarray technology has been extensively validated, applied and accepted worldwide since this publication of this paper. Yet, this study provides an excellent explanation using live cases and comparison with traditional techniques of cytogenetic analysis such as Karyotyping and FISH.