A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Eur J Hum Genet. 2001 May;9(5):319-27. doi: 10.1038/sj.ejhg.5200591.


Cryptic unbalanced subtelomeric rearrangements are known to cause a significant proportion of idiopathic mental retardation in childhood. Because of the limited sensitivity of routine analyses, the cytogenetic detection of such rearrangements requires molecular techniques, namely FISH and comparative genomic hybridisation (CGH). An alternative approach consists in using genetic markers to detect segmental aneusomy. Here, we describe a new strategy based upon automated fluorescent genotyping to search for non mendelian segregation of telomeric microsatellites. A total of 29 individuals belonging to 24 unrelated families were screened and three abnormal patterns of segregation were detected (two rearrangements and one parental disomy). This study gives strong support to the view that cryptic telomeric rearrangements significantly contribute to idiopathic mental retardation and demonstrates that fluorescent genotyping is a very sensitive and cost-effective method to detect deletions, duplications and uniparental disomies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 6
  • Cytogenetic Analysis / methods
  • Female
  • Gene Rearrangement*
  • Genetic Markers
  • Genetic Testing / methods*
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Monosomy
  • Pedigree
  • Telomere / genetics*
  • Translocation, Genetic


  • Genetic Markers