Microdeletion and Microduplication Syndromes

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 wh...

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Bibliographic Details
Published in:The journal of histochemistry and cytochemistry 2012-05, Vol.60 (5), p.346-358
Main Authors: Weise, Anja, Mrasek, Kristin, Klein, Elisabeth, Mulatinho, Milene, Llerena, Juan C., Hardekopf, David, Pekova, Sona, Bhatt, Samarth, Kosyakova, Nadezda, Liehr, Thomas
Format: Article
Language:English
Subjects:
Chromosome Aberrations
Databases, Factual
Gene Deletion
Gene Duplication
Genome, Human
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Nucleic Acid Amplification Techniques
Oligonucleotide Array Sequence Analysis
Review
Syndrome
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Summary: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.
ISSN:0022-1554
1551-5044
DOI:10.1369/0022155412440001