In situ hybridization centromeric probes - Molecular cytogenetics - Chromosome Enumeration

Chromosome Enumeration Probes are designed for identification and enumeration of human chromosomes in interphase cells and as an adjunct to standard karyotyping in metaphases. These probes will produce sharp, bright signals specific for each individual chromosome. 

As several chromosomes share the same repetitive sequences resulting in cross-hybridization signals, they cannot be differentiated by centromere specific probes. Instead, these chromosomes can be identified by direct labeled Specific Probes hybridizing in close proximity to the respective satellite DNA sequences or to other chromosome specific loci.

One of the most common applications of HIS is the diagnosis of chromosomal microremanagements. These are most often specific microdeletions or microduplications of well-individualized clinical syndromes of which the best known are DiGeorge (22q11.2), WAGR (Wilms, aniridia, genital anomalies and mental retardation) (11p13), Williams (7q11. 23) or Smith-Magenis (17p11.2), Prader-Willi and Angelman (15q11q13), Langer-Giedion (8q24) and Miller-Dieker (17p13.3) for deletions, and Wiedeman-Beckwith (11p15), Charcot-Marie-Tooth p(17p12) and Pelizaeus-Merzbacher (Xq22) syndromes for duplications.