The Use of Microarray Technology for Cytogenetics

  • Bassem A. BejjaniEmail author
  • Lisa G. Shaffer
  • Blake C. Ballif
Part of the Methods in Molecular Biology book series (MIMB, volume 632)


The use of microarray technology is revolutionizing the field of clinical cytogenetics. This new technology has transformed the cytogenetics laboratory by adapting techniques that have heretofore been the province of molecular geneticists. Intimate knowledge and comfortable familiarity with these techniques are now a must for the modern cytogeneticist, rather than a stimulating but discretionary intellectual exercise or an elective luxury. The cytogenetic laboratory of the future will likely have more scanners than microscopes, more software packages than darkrooms, and more technologists, supervisors, and directors with molecular training than ever before. This technical convergence between molecular diagnostics and clinical cytogenetics is exciting and has already resulted in many stimulating discoveries. However, the traditional skills of the cytogeneticist are needed now more than ever before. As our ability to inspect the genome increases, so does the variety of abnormalities that we uncover. Understanding the mechanisms of these aberrations to guide additional testing of the parents and genetic counseling of the patients and their families requires the expertise of individuals who are well-versed in meiotic mechanisms and chromosomal structures that may lead to these abnormalities. Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families.

Key words

Microarray Comparative genomic hybridization Array CGH Oligonucleotide Molecular cytogenetics 



We thank Emily Hall and Richard Lloyd (Signature Genomic Laboratories, Spokane, WA) for their contributions to the protocol.


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Copyright information

© Humana Press, a part of Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Bassem A. Bejjani
    • 1
    Email author
  • Lisa G. Shaffer
    • 1
  • Blake C. Ballif
    • 1
  1. 1.Signature Genomic LaboratoriesSpokaneUSA

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