Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics

Analysis of genes and chromosomes by nonisotopic in situ hybridization

“…It is very often extremely difficult to assign small pieces of rearranged chromosomal material by banding techniques, whereas painting of the chromosome in question visualizes even small translocated material of the targeted chromosome [156]. Chromosome painting can be used for detecting numerical as well as structural aberrations of a particular chromosome (e.g., chromosome 21 aberrations diagnostic for Down's Syndrome) [48,59,67,69,157].…”

Translocation (8;21) in acute nonlymphocytic leukemia delineated by chromosomal in situ suppression hybridization

“…In contrast, chromosome painting may be used for the unequivocal identification even in metaphases with rather condensed chromosomes. Accordingly, CISS hybridization with DNA libraries from sorted chromosomes may be recommended as a proper tool for detecting translocations of a few DNA megabases in cases where chromosome banding patterns do not allow a distinctive differential diagnosis between deletion or translocation [8]. Painting of whole chromosomes using DNA libraries from sorted chromosomes provides the advantage that translocations involving any material from the painted chromosome can be detected.…”

“…Using recombinant DNA libraries established from sorted human chromosomes, this procedure has made possible the specific delineation ("painting") of individual human chromosomes. In particular, translocations derived from painted chromosomes can be easily recognized [4,[6][7][8]. The sensitivity of this approach, however, may be limited by the size of the translo-cated part of a painted chromosome, depending on the localization of the breakpoint.…”

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

“…FISH involves the hybridization of fluorescently labeled DNA probes to the denatured DNA of metaphase chromosomes or interphase nuclei directly on a glass slide 19–21. Types of DNA probes include unique sequence probes such as:

bacterial artificial chromosome (BAC) clones, yeast artificial chromosome (YAC) clones, and cosmid clones that are used to interrogate a specific locus on a chromosome;

repetitive sequence probes, such as alpha-satellite sequences to identify the centromeric regions of individual chromosomes; or

whole-chromosome painting (WCP) probes, which utilize chromosomal libraries of clones for hybridization along the length of a specific chromosome.

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