title: High resolution definition of chromosome abnormalities with probes designed from genome sequences.
abstract: Extract: Numerical and structural chromosome abnormalities are a common cause of inherited and acquired diseases in humans. Cytogenetic detection of genomic imbalances and rearrangements is standard diagnostic practice, and is used both prognostically and for treatment stratification, especially for neoplastic disorders. Abnormalities are recognized by chromosome banding and by fluorescence in situ hybridization (FISH). FISH permits examination of specific DNA sequences within single or multiple chromosome bands on a metaphase cell or within an interphase cell. Locus-specific FISH probes have traditionally been composed of recombinant DNA segments that span large chromosomal targets of hundreds of thousands of base pairs, about an order of magnitude smaller than the length of a typical chromosomal band. These probes, which contain either repetitive sequences, single copy sequences or combinations of both, have been developed to hybridize to a wide spectrum of chromosomal targets -- encompassing a single gene to an entire chromosome. Commercially available clones are generally useful for detecting more common abnormalities, whereas, detection or characterization of rare chromosomal abnormalities by FISH has relied on clones obtained from research laboratories.
authors: Laboratories of Human Molecular Genetics and Genomic Disorders, Children's Mercy Hospitals and Clinics, University of Missouri, Kansas City, Missouri 64108, USA.
authors: Joan H M
authors: JH
authors: Knoll
authors: Peter K
authors: PK
authors: Rogan