Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies

Abstract

The last decade has witnessed an upsurge in the knowledge of cytogenetic disorders and putting the old technology in a new basket with molecular genetics. As conventional cytogenetic can detect the genetic alteration of 10-15 Mb, many of the micro-deletions and micro-duplications are missed. However, with the advent of technology of fluorescence <i style="">in situ</i> hybridization (FISH), the resolution of genetic aberrations can reach to 3-5 Mb, nonetheless the anomalies smaller than the above, need further precision which has been achieved using comparative genomic hybridization array (CGH-array). Introduction of array-CGH has brought higher sensitivity with automated DNA fragment analyzer and DNA chip for submicroscopic chromosomal anomalies that are missed till date in many of the acquired and constitutional genetic disorders. The resolution of the technology varies from several Kb to 1 Mb depending upon the type of array selected. With the recent improvement in the array-CGH technology, a link between cytogenetic and molecular biology has been established without replacing conventional cytogenetic technique. The wider accessibility of the technology shall certainly provide a clue to the many unidentified/unexplained genetic disorders which shall prove to be a boon to the clinicians.