Prenatal Diagnosis of Complex Rearrangement of Chromosome 21: The Significance of Interphase and Metaphase Fluorescence in Situ Hybridization and Comparative Genomic Hybridization
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Abstract
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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