Aneuploidy

Aneuploidy is a genomic mutation. It is a phenomenon in which there is a deficiency or excess of chromosomes in all cells of a given organism. The cause of aneuploidy is an incorrect course of meiosis (reduction division); it is a consequence of a defect of the spindle apparatus or the centromere, which results in a failure of homologous chromosome pairs to separate, so the resulting gametes contain supernumerary chromosomes, or, conversely, lack certain chromosomes. It may also be caused by exposure to ionizing radiation, mutagens, and cytostatically acting chemical substances.

Examples of aneuploidy:

• Down syndrome – this is a trisomy of the 21st human chromosome
• Edwards syndrome – trisomy of chromosome 18
• Patau syndrome – trisomy of chromosome 13
• Turner syndrome – a condition in which the individual has only one gonosome X
• Superfemale – aneuploidy of the female gonosome, XXX
• Supermale – aneuploidy of the male chromosome, XYY
• Klinefelter syndrome – the gonosomes are supplemented by an additional X chromosome (XXY)

• rôznorodé
• závisia od genomickej mutácie