Genetics For Dummies!
Dernière mise à jour 29 août 2021
InvDupDel8p : Inversion, Duplication, Délétion 8p...but what exactly does that mean?!
In this section we will treat the subject of genetics from a “lambda” point of view. There are enough resources available on the Internet (we’ll share the most relevant links with you) to learn about genetics, but they are often so detailed that you quickly get lost in the density of the content. Here, we will try to keep things simplified because we are privileged to be able to focus on the diagnosis of InvDupDel8p alone.
That said, this section is for readers, “Dummies!” in genetics; whether you are a family member of someone with invdupdel8p, a friend, a medical specialist treating someone with invdupdel8p (but not necessarily a doctor), a teacher, or anyone else who is in the company of a person affected by invdupdel8p, who wishes to know more about this genetic reorganization.
Let’s do a quick summary right now of invdupdel8p. We’ll come back later, with more explanatory details, so stay tuned for updates to this section.
To begin with, when we talk about genetic disease, it does not always mean “disease” as we can understand it in everyday language. Let’s talk about an anomaly that is at the level of the chromosomes; something that was built in a different way than the majority of human beings, but on an (almost) unchangeable plan and which will remain for the lifetime of the person who wears it.
In the case of invdupdel8p, the anomaly is located precisely on the small part – hence the “p” – of the eighth (8th) chromosome.
- There can be only one deletion: missing information;
- There can only be duplication: duplicate or “excess” information;
- There can be combinations of deletions, duplications and even all that with an inversion: any formula combining deletion, duplication and everything “upside down”.
If we compare genetic encoding to computer encoding, it is more obvious to understand that the slightest change, or typing error, can cause a lot of problems…but let’s not forget that natural and human errors can also bring wonderful surprises…so always keep in mind the potential!
...more information to come, in the meantime, we advise you to take a look at the Unique website, where you will find a selection of guides by genetic diagnosis, available in French thanks to the Association Valentin APAC.
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