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Genomic Disorders

Genomic Disorder is a term coined by Lupski and Stankiewicz to contrast mere nucleotide substitutions and small size deletions insertions and duplications with large genomic rearrangements that affect a greater portion of the genome. While the former affects only one gene at most in a gain-of-function or loss-of-function manner, the latter can have larger-scale effects [Error: Wrong macro arguments: "14500" for macro 'ref' (maybe wrong macro tag syntax?)] .

Those larger-scale effects of genomic rearrangements include:

  • gene dosage
  • gene interruption
  • gene fusion
  • position effects
  • unmasking
  • transvection

However, the term genomic disorder implies that these effects are negative only. That is certainly not always true. From fauceir perspective these rearrangement have great evolutionary implications more than just nucleotide substitutions. Such rearrangements as higher order fauceirs are much easier to control and therefore as in the maturation of the immune system may occurs during development.

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