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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

Authors
Publication Date
Keywords
  • Microarray Data Standardization And Validation
  • Microarray Gene Expression Processing
  • Mental Retardation
Disciplines
  • Biology
  • Design
  • Ecology
  • Geography

Abstract

LETTER TO JMG Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation N Harada, E Hatchwell, N Okamoto, M Tsukahara, K Kurosawa, H Kawame, T Kondoh, H Ohashi, R Tsukino, Y Kondoh, O Shimokawa, T Ida, T Nagai, Y Fukushima, K Yoshiura, N Niikawa, N Matsumoto . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . J Med Genet 2004;41:130–136. doi: 10.1136/jmg.2003.014639 M ental retardation (MR) occurs in 2–3% of the general population, and more than half of MR patients are categorised as idiopathic—that is, the cause is unknown.1 2 Patients with idiopathic MR are presumed to be affected with certain genetic disorders or undetectable chromosomal abnormalities. MR may also be caused by environmental factors independently or by their interaction with genetic factors. Subtelomeric rearrangements comprise about half of segmental aneusomies,3 and are one of the major causes of MR.4 5 A recent review showed that subtelomeric rearrangements were detected in 131 (5.1%) of 2585 children with MR.1 4–6 Conventional cytogenetic analysis can detect many, but not all, rearrangements, depending on its powers of resolution.4 Other methods, such as fluorescent in situ hybridisation (FISH) using a complete set of subtelomeric probes, multicolour FISH (M-FISH), comparative genomic hybridisation (CGH), spectrum karyo- typing, multiple amplifiable probe hybridisation, primed in situ labelling, and genotyping have been designed to detect subtelomeric rearrangements, but none of them is ideal in terms of sensitivity and/or efficiency.4 6 Microarray based CGH is a promising, high throughput method of detecting subtelomeric rearrangements.4 Veltman et al recently reported a microarray CGH system using crude bacterial/pl

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