Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

✍ Scribed by Liesbeth Rooms; Edwin Reyniers; R. Frank Kooy

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 299 KB
• Volume: 25
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.20185

✦ Synopsis

In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients need to be tested on a routine basis. In this review, we will discuss the different methods that have been applied in laboratories worldwide, including multiprobe fluorescence in situ hybridization (FISH), multiallelic marker analysis, multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, comparative genomic hybridization (CGH), and multicolor FISH, including spectral karyotyping (SKY), subtelomeric combined binary ratio labeling FISH (S-COBRA FISH), multiplex FISH telomere integrity assay (M-TEL), telomeric multiplex FISH (TM-FISH), and primed in situ labeling (PRINS).