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Diagnosing trisomy 21


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Diagnosing trisomy 21
Fluorescence in situ hybridization (FISH) of interphase nuclei from a fetus has been used to diagnose trisomy 21. In each cell, there are two green spots (LSI 13 SpectrumGreen probe, Vysis) and three red spots (LSI 21 SpectrumOrange probe, Vysis) marking the 13q14 and 21q22.13-q22.2 chromosomal regions, respectively.

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Aneuploidies disturb the delicate balance of gene products in cells by changing the chromosome number. What are the causes and phenotypic consequences of these meiosis mishaps?

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