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Molecular Cytogenetic Delineation of Chromosomal Structure and Complexity
Author(s) -
Schwartz Stuart
Publication year - 2009
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.23.1_supplement.179.1
Subject(s) - cytogenetics , chromosomal translocation , biology , breakpoint , chromosome , fish <actinopterygii> , genetics , evolutionary biology , chromosome engineering , ring chromosome , simple (philosophy) , molecular cytogenetics , suspect , computational biology , karyotype , gene , philosophy , epistemology , fishery , law , political science
There has been an explosion of technology in the entire field of genetics, but especially in the sub discipline of cytogenetics. Today we can not only visualize chromosomes microscopically, we can utilize FISH to look at any specific region of interest within a chromosome regardless of size, and to use array technology to look for subtle gains or losses of chromosome material. New syndromes and small changes leading to abnormal phenotypes have been identified utilizing this new technology. It has always been believed in cytogenetics that the most logical approach is to suspect the simplest route in the formation of abnormalities. However based on many studies using both FISH analysis and array studies, we have begun to learn that many abnormalities are more complex than originally envisioned. Utilizing an approach combining classical cytogenetics, FISH and array analysis, we have studied numerous abnormalities that now have been shown to be more complex than originally thought. These include: "balanced" translocations that have been shown to have deleted material; rearrangements thought to involve 2 or 3 breaks which actually have up to 12 different breakpoints; deletion which appear to be simple but have material within the deleted region present; ring chromosomes which are fragmented so that they contain discontinuous regions of the normal chromosomes; and inversions which can be shown to be insertions. These findings teach us several aspects concerning the formation of chromosome abnormalities. First, it shows that there are not always simple mechanisms leading to abnormalities and by studying these we may eventually better understand the underlying causes of structural abnormalities. Second, these complex rearrangements have an impact on the phenotype as genes initially thought to be involved may in fact not be.