title: Microdeletion and microduplication syndromes.
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.
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany. Anja.Weise@mti.uni-jena.de
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Klein
authors.forename: Milene
authors.initials: M
authors.lastname: Mulatinho
authors.forename: Juan C
authors.initials: JC
authors.lastname: Llerena
authors.forename: David
authors.initials: D
authors.lastname: Hardekopf
authors.forename: Sona
authors.initials: S
authors.lastname: Pekova
authors.forename: Samarth
authors.initials: S
authors.lastname: Bhatt
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D002869:Chromosome Aberrations; D016208:Databases, Factual; D017353:Gene Deletion; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome