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Chromosome duplication

(4 Posts)
mimi14 Fri 12-Aug-16 12:37:33

5 year old DS has had signs/characteristics of ASD for some time so we've recently seen a paed... He was referred to have a blood test to rule out a chromosomal abnormality.

We had the results back today and they found he has a duplication of a small section on the long arm of chromosome 6. In more detail it's 1.024mb from band q23.3 of chromosome 6.

DH and I have to have a blood test to establish the importance of this, but in the meantime does anyone have any experiences of this? Thanks.

JustPoppingIn Fri 12-Aug-16 15:02:26

Unfortunately no experience, but there is a charity called Unique you could look at. I came across it a while ago and it seemed really informative.

Best wishes

grumpysquash3 Tue 16-Aug-16 21:35:26

You and your DH are being tested to see if one of you also has the duplication. If you do, there is a 50:50 chance of any future children also having the same thing. If not, no problem with that.

Why did the Dr think that ASD symptoms were related to a chromosomal alteration?

cestlavielife Thu 18-Aug-16 22:15:23

Speak to unique
www.rarechromo.org/information/Chromosome%20%206/6p%20duplications%20FTNW.pdf

Are features similar ?

Children with deletion s or duplications often have asd traits.
You can ask for ADOS assessment to assess for asd

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