Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. Issue 4 (1st April 2002)

• Record Type: Journal Article
• Authors: Rio, M; Molinari, F; Heuertz, S; Ozilou, C; Gosset, P; Raoul, O; Cormier-Daire, V; Amiel, J; Lyonnet, S; Le Merrer, M; Turleau, C; de Blois, M-C; Prieur, M; Romana, S; Vekemans, M; Munnich, A; Colleaux, L
• Is Part Of: Journal of medical genetics. Volume 39:Issue 4(2002)
• Page Start: 266
• Page End: 270
• Publication Date: 2002-04-01
• Subjects: 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; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.39.4.266
• Languages: English
• ISSNs: 1468-6244

Abstract

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.