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World J Med Genet. May 27, 2013; 3(2): 5-8
Published online May 27, 2013. doi: 10.5496/wjmg.v3.i2.5
Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications
Toshiyuki Yamamoto, Shino Shimada, Keiko Shimojima
Toshiyuki Yamamoto, Shino Shimada, Keiko Shimojima, Tokyo Women’s Medical University Institute for Integrated Medical Sciences, Tokyo 162-8666, Japan
Author contributions: Yamamoto T wrote the manuscript; Shimada S and Shimojima K collected the data.
Correspondence to: Toshiyuki Yamamoto, MD, PhD, Tokyo Women’s Medical University Institute for Integrated Medical Sciences, Kawada-cho 8-1, Shinjuku-ward, Tokyo 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp
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Received: March 23, 2013
Revised: May 14, 2013
Accepted: May 20, 2013
Published online: May 27, 2013
Core Tip

Core tip: Fiber-fluorescence in situ hybridization analysis has the potential to reveal the orientation of duplicated and triplicated segments of chromosomes. Previously, we reported that interstitial duplications were aligned in tandem configurations, supporting the hypothesized mechanism of non-allelic homologous recombination; however, there were rare cases of inverted duplications. Further analysis is therefore required to fully elucidate the basic mechanisms underlying such duplications/triplications.