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I'm looking for information about 8p23 duplication syndrome

5 replies

lucysmam · 13/04/2019 18:18

Something very basic, if anyone here might be able to point me towards something?

Everything I've clicked so far seems to be more medical info based than I think I need for now.

Tia if you can help :)

OP posts:
NotAnotherNameChange99 · 13/04/2019 19:03

What do you need to know?

Chromosomal duplications happen when a bit of genetic code is mistakenly duplicated. 8p23 is a duplication of a bit of chromosome 8. When you have 'extra' genetic material it can sometimes influence evolution positively and in other cases causes abnormal characteristics.

This is a good page about 8p23
rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome

And BBC Bitesize is brilliant for explaining chromosomes a bit more simply
www.bbc.com/bitesize/guides/zc499j6/revision/1

nocoolnamesleft · 13/04/2019 19:11

www.rarechromo.org/media/information/Chromosome%20%208/8p23%20duplications%20FTNW.pdf might be worth a look.

floppylettuceisbest · 13/04/2019 21:52

Hi there, 8 is the number of the chromosome affected, p is the smaller arm of the chromosome and 23 is probably the 'band' where the duplication has taken place. The duplication could be from the number 8 chromosome itself or any one of the other chromosomes. It is my understanding ( and I could be wrong) that dependant on which chromosome, and how much of that chromosome, that is duplicated would denote how seriously affected the person with this arrangement would be. One of our family members has the chromosome arrangement Partial Trysomy 8p+ duplicated 8 at 23.1 to 23.3. In simple terms, the number 8 chromosome has duplicated part of it's small arm (p) between the 'bands' of 23.1 and 23.3 therefore giving 'double' amounts of the same information to this part of the chromosome. This affects every number 8 chromosome in the body and presents as learning disabilities amongst other things Contact Unique, the rare chromosome support group or The Gene Aid Trust for further information. If I can be of support in anyway then feel free to message me.

lucysmam · 13/04/2019 22:11

Thank-you all, those are links I had looked at earlier today - I don't really understand it but hopefully eventually will! (It's not me personally who needs info). Google seems to give very general suggestions of how it presents so maybe best to wait and see first :)

OP posts:
Leeeeemon36 · 14/04/2019 00:09

@floppy that’s impressive bit of information, thank you

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