A new strategy for the detection of subtelomeric rearrangements

Hum Genet. 2001 Dec;109(6):576-83. doi: 10.1007/s00439-001-0629-7. Epub 2001 Nov 9.


We present a new strategy for the detection of subtelomeric rearrangements. This approach is based on two hybridizations with different probe sets. The first set consists of microdissected subtelomeric probes (each 5-10 megabases in size) labeled combinatorially employing 7 different fluorochromes. With this set, subtelomeric interchromosomal exchanges can be detected in a 24-color experiment. The second set comprises a second generation of subtelomeric PAC-, P1- and BAC-clones. Probes for p- and q-arms are labeled with two different colors. This second set detects small deletions; in addition it provides regional information, so that translocated material identified by the first probe set can be assigned to the p- or q-arm of a chromosome. The test has been evaluated in a blind study on a series of subtle translocations and deletions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Painting
  • Chromosomes, Human / genetics*
  • Humans
  • Metaphase
  • Sequence Deletion
  • Telomere / genetics*
  • Translocation, Genetic*