Microdeletion and microduplication syndromes.

نویسندگان

  • Anja Weise
  • Kristin Mrasek
  • Elisabeth Klein
  • Milene Mulatinho
  • Juan C Llerena
  • David Hardekopf
  • Sona Pekova
  • Samarth Bhatt
  • Nadezda Kosyakova
  • Thomas Liehr
چکیده

The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted "genomic disorders" or "contiguous gene syndromes" is given.

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عنوان ژورنال:
  • The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society

دوره 60 5  شماره 

صفحات  -

تاریخ انتشار 2012