Trisomy and Monosomy – Tales from the Genome

Trisomy and Monosomy – Tales from the Genome


So Trisomy 21 or having three copies of chromosome 21, is an example of aneuploidy, where we gained a chromosome and this is referred to clinically as Down’s Syndrome. It’s a disorder which results in a delay of cognitive development, physical growth as well a particular set of facial features. Now monosomy X or XO, is an example of aneuploidy from having lost a chromosome. We only have one X chromosome and no Y chromosome or no other X chromosome. And this is referred to as Turner’s Syndrome, a disorder with physical and hormonal abnormalities that result in infertility. In general, aneuploidy has largely negative effects. In fact, I haven’t been able to come up with one example where aneuploidy has an overall net positive effect. Now for you advanced learners out there, aneuploidy and polyploidy aren’t the same thing and there are net positive effects to polyploidy. But if you can come up with a good positive example, a net positive example for aneuploidy, I would love it if you go to the forums and post it. I think we’d all like to see what a good example of that would be.

One comment

Leave a Reply

Your email address will not be published. Required fields are marked *