Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

Heredity (Edinb). 2012 Jan;108(1):75-85. doi: 10.1038/hdy.2011.100. Epub 2011 Nov 16.


Genomic rearrangements can result in losses, amplifications, translocations and inversions of DNA fragments thereby modifying genome architecture, and potentially having clinical consequences. Many genomic disorders caused by structural variation have initially been uncovered by early cytogenetic methods. The last decade has seen significant progression in molecular cytogenetic techniques, allowing rapid and precise detection of structural rearrangements on a whole-genome scale. The high resolution attainable with these recently developed techniques has also uncovered the role of structural variants in normal genetic variation alongside single-nucleotide polymorphisms (SNPs). We describe how array-based comparative genomic hybridisation, SNP arrays, array painting and next-generation sequencing analytical methods (read depth, read pair and split read) allow the extensive characterisation of chromosome rearrangements in human genomes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Breakpoints
  • Chromosome Mapping
  • Chromosome Painting
  • Chromosomes, Human / genetics*
  • Comparative Genomic Hybridization
  • Genome, Human
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Neoplasms / genetics
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide