title: Multicolor FISH methods in current clinical diagnostics.
abstract: Multicolor FISH (mFISH) assays are currently indispensable for a precise description of derivative chromosomes. Routine application of such techniques on human chromosomes started in 1996 with the simultaneous use of all 24 human whole-chromosome painting probes in multiplex-FISH and spectral karyotyping. Since then, multiple approaches for chromosomal differentiation based on multicolor-FISH (MFISH) assays have been developed. Predominantly, they are applied to characterize marker or derivative chromosomes identified in conventional banding analysis. Since the introduction of array-based comparative genomic hybridization (aCGH), mFISH is also applied to verify and further delineate aCGH-detected aberrations. For the latter, it is important to consider the fact that aCGH cannot detect or characterize balanced rearrangements, which are important to be resolved in detail in infertility diagnostics. In addition, mFISH is necessary to distinguish different imbalanced situations detectable in aCGH; small supernumerary marker chromosomes have to be differentiated from insertions or unbalanced translocations. This review presents an overview on the available mFISH methods and their applications in pre- and post-natal clinical genetics.
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, Jena D-07743, Germany. i8lith@mti.uni-jena.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Ahmed B
authors.initials: AB
authors.lastname: Hamid
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Fan
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Klein
authors.forename: Nadine
authors.initials: N
authors.lastname: Aust
authors.forename: Moneeb Ak
authors.initials: MA
authors.lastname: Othman
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase / Q000235:genetics; D011296:Prenatal Diagnosis