Article Text

Download PDFPDF
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
  1. M Rio,
  2. F Molinari,
  3. S Heuertz,
  4. C Ozilou,
  5. P Gosset,
  6. O Raoul,
  7. V Cormier-Daire,
  8. J Amiel,
  9. S Lyonnet,
  10. M Le Merrer,
  11. C Turleau,
  12. M-C de Blois,
  13. M Prieur,
  14. S Romana,
  15. M Vekemans,
  16. A Munnich,
  17. L Colleaux
  1. Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France
  1. Correspondence to:
 Dr L Colleaux, INSERM U393, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75015 Paris, France;
 colleaux{at}necker.fr

Abstract

Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.

  • mental retardation
  • subtelomeric rearrangements
  • uniparental disomies
  • fluorescent genotyping
  • MR, mental retardation
  • CGH, comparative genomic hybridisation
  • FISH, fluorescence in situ hybridisation
  • UPD, uniparental disomy
  • PFGE, pulse field gel electrophoresis
  • DOP-PCR, degenerate oligonucleotide primed polymerase chain reaction

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes