What are the difference between trisomy 21 for translocation, mosaic and simple?
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Trisomy 21 can occur in different forms, including translocation, mosaic, and simple trisomy. In translocation trisomy 21, there is an attachment of two chromosomes 21 to another chromosome, such as chromosome 10 . Mosaic trisomy 21 refers to the presence of both normal and trisomic cells in an individual, with an average proportion of trisomic cells approximating 0.5 . Simple trisomy 21, also known as complete trisomy 21, involves the presence of an extra copy of chromosome 21 in all cells . These different forms of trisomy 21 have distinct characteristics. For example, in mosaic trisomy 21, fetuses do not present with the same abnormal screening tests as those with simple trisomy 21 . Additionally, Cu/Zn superoxide dismutase (SOD-1) activity was found to be increased in cases of regular trisomy 21 and translocation trisomy 21, but not in mosaic trisomy 21 .
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20 Citations | The study found that fetuses with mosaic trisomy 21 do not present with the same abnormal screening tests as fetuses with complete trisomy 21. |
13 Citations | The SOD-1 activity is increased in regular trisomy 21 and translocation trisomy 21, but not in mosaic trisomy 21. |
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