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Akira Namba, Miyuki Nishiyama, Joseph J Weiser, Phillip Wyatt, Machiko Kimura, Rei Niizawa, Akinori Miki, Osamu Ishihara, Atsuo Itakura and Yoshimasa Kamei Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization Clinical Case Reports 1

Version of Record online: 9 OCT 2013 | DOI: 10.1002/ccr3.22

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Maternal serum screening–positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region.

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