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MICRODELETION AND MICRODUPLICATION SYNDROMES
Microduplication Syndrome
Contiguous Gene Syndromes
Non-Allelic Homologues Recombination
Fluorescence in Situ Hybridization
Multiplex Ligation-Dependent Probe Amplification
Quantitative Polymerase Chain Reaction
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Abstract
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.
Keywords
Microdeletion SyndromeMicroduplication Syndrome
Contiguous Gene Syndromes
Non-Allelic Homologues Recombination
Fluorescence in Situ Hybridization
Multiplex Ligation-Dependent Probe Amplification
Quantitative Polymerase Chain Reaction
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