Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation

Ann Genet. 2004 Jan-Mar;47(1):53-9. doi: 10.1016/j.anngen.2003.10.001.

Abstract

Cryptic unbalanced rearrangements involving chromosome ends are a significant cause of idiopathic mental retardation. The most frequently used technique to screen for these subtle rearrangements is Multiprobe fluorescence in situ hybridization (FISH). As this is a labor-intensive technique, we used microsatellite genotyping to detect possible subtelomeric rearrangements in a study population. Out of the 70 patients we screened, three chromosomal rearrangements were detected: a deletion of marker D2S2986, a deletion of marker D7S594 and a deletion of marker D19S424. However, none of these aberrations appeared to be disease causing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations*
  • Genetic Markers*
  • Genetic Testing*
  • Humans
  • Intellectual Disability / genetics*
  • Microsatellite Repeats
  • Polymorphism, Genetic
  • Telomere*

Substances

  • Genetic Markers