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When aneuploidy is detected in a fraction of cells in an individual, it is called chromosomal mosaicism.In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to those with full trisomy.Disomy is the presence of two copies of a chromosome.For organisms such as humans that have two copies of each chromosome (those that are diploid), it is the normal condition.Trisomy refers to the presence of three copies, instead of the normal two, of a particular chromosome.

The most frequent aneuploidy in humans is trisomy 16, although fetuses affected with the full version of this chromosome abnormality do not survive to term (it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all).Not everything over there is fully functional yet, and the internal links still point to this blog, and will for the indefinite future.So all the old material will be left here for archival purposes, with comments turned off.Tetrasomy and pentasomy are the presence of four or five copies of a chromosome, respectively.Although rarely seen with autosomes, sex chromosome tetrasomy and pentasomy have been reported in humans, including XXXX, XXYY, XXXXX, XXXXY and XYYYY.

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