Chromosome duplication

[mimi14]

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.

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

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?

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