In the middle of it all: a centered approach to chromosome analysis

The pericentromeric areas immediately flanking the centromeres are prone to instability owing to their high levels of repetitive sequences. This genomic instability makes the pericentromeric regions ideal candidates for the investigation of chromosomal abnormalities resulting in genetic disease. However, it is this instability that confounds attempts to analyze these regions of the genome. The sequencing of the human genome, while illuminating the complexity of the pericentromeric regions, has enabled the development of high-resolution microarrays for the characterization of chromosomal abnormalities.

The MarkerChip(™) was developed specifically to target the pericentromeres for the identification and characterization of pericentromeric chromosomal abnormalities.

The authors' experience with this microarray is reviewed in their clinical diagnostic laboratory.

The MarkerChip demonstrates the utility of constructing a microarray for the analysis of chromosome abnormalities with coverage concentrated on areas of the genome particularly susceptible to rearrangement.