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BackgroundConventional G-band karyotyping offers low-resolution detection of chromosome abnormalities and cannot provide… Expand The association between fragile sites and human genetic diseases is still debatable. Although FRAXA and FRAXE have been found to… Expand Fragile sites are specific genomic loci that are particularly prone to chromosomal breakage. Based on their incidence in the… Expand Folate-sensitive fragile sites are associated with the expansion and hypermethylation of CCG-repeats. The fragile site in 11q23.3… Expand Fragile X syndrome is now a well established common clinical entity and most of those who are aware of the condition probably… Expand The 11q- syndrome (Jacobsen syndrome) involves characteristic but variable features including trigonocephaly, facial dysmorphism… Expand Recent studies have identified a (CCG)n repeat in the 5' untranslated region of the CBL2 protooncogene (11q23.3) and have… Expand