title: How to narrow down chromosomal breakpoints in small and large derivative chromosomes--a new probe set.
abstract: Here a new fluorescence in situ hybridization (FISH-) based probe set is presented and its possible applications are highlighted in 34 exemplary clinical cases. The so-called pericentric-ladder-FISH (PCL-FISH) probe set enables a characterization of chromosomal breakpoints especially in small supernumerary marker chromosomes (sSMC), but can also be applied successfully in large inborn or acquired derivative chromosomes. PCL-FISH was established as 24 different chromosome-specific probe sets and can be used in two- up multicolor-FISH approaches. PCL-FISH enables the determination of a chromosomal breakpoint with a resolution between 1 and ∼10 megabasepairs and is based on locus-specific bacterial artificial chromosome (BAC) probes. Results obtained on 29 sSMC cases and five larger derivative chromosomes are presented and discussed. To confirm the reliability of PCL-FISH, eight of the 29 sSMC cases were studied by array-comparative genomic hybridization (aCGH); the used sSMC-specific DNA was obtained by glass-needle based microdissection and DOP-PCR-amplification. Overall, PCL-FISH leads to a better resolution than most FISH-banding approaches and is a good tool to narrow down chromosomal breakpoints.
authors.affiliation: Institute of Human Genetics, Jena University Hospital, Kollegiengasse 10, 07743 Jena, Germany.
authors.forename: Ahmed B
authors.initials: AB
authors.lastname: Hamid
authors.forename: Katharina
authors.initials: K
authors.lastname: Kreskowski
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosayakova
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Martin
authors.initials: M
authors.lastname: Voigt
authors.forename: Roberta Santos
authors.initials: RS
authors.lastname: Guilherme
authors.forename: Rebecca
authors.initials: R
authors.lastname: Wagner
authors.forename: David
authors.initials: D
authors.lastname: Hardekopf
authors.forename: Sona
authors.initials: S
authors.lastname: Pekova
authors.forename: Tatyana
authors.initials: T
authors.lastname: Karamysheva
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Klein
mesh_terms: D056905:Chromosome Breakpoints; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002877:Chromosomes, Human / Q000235:genetics*; D015342:DNA Probes / Q000378:metabolism*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping
chemical_list: D015342:DNA Probes