Literature DB >> 20217575

The use of microarray technology for cytogenetics.

Bassem A Bejjani1, Lisa G Shaffer, Blake C Ballif.   

Abstract

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.

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Year:  2010        PMID: 20217575     DOI: 10.1007/978-1-60761-663-4_8

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  2 in total

1.  Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.

Authors:  Nicholas J Neill; Beth S Torchia; Bassem A Bejjani; Lisa G Shaffer; Blake C Ballif
Journal:  Mol Cytogenet       Date:  2010-06-29       Impact factor: 2.009

Review 2.  Nijmegen breakage syndrome (NBS).

Authors:  Krystyna H Chrzanowska; Hanna Gregorek; Bożenna Dembowska-Bagińska; Maria A Kalina; Martin Digweed
Journal:  Orphanet J Rare Dis       Date:  2012-02-28       Impact factor: 4.123

  2 in total

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