Son diagnosis today of 15q13.3 micro duplication

The pead doctor ran tests, as my son has suspected ASD, the chromosome test is quite new and only been done in the last couple of years! It is just part of the developmental tests that they do now. Maybe if you speak to your GP maybe they could refer you to get your chromosomes checked. There is not an awfull lot known about the duplication, I think the first documented case was in 2008/9 so I guess a lot of research has still to be done, and we will find out more in the future of how this certain duplication will manifest. X 

I don't have a geneticist.  I think I might be an interesting study for one, but the NHS doesn't do genetic tests unless there is a specific reason to suspect a genetic condition.  I expect they are expensive to run, and unless you have physical problems (which in the NHS only seem to be severe ones not the frequent GI, sensory and sleep problems in ASC) they'd probably refuse.

Just out of interest, what made the doctor instigate genetic tests for your little boy?

Sorry I can't be of much help, all I know so far (I only found out yesterday about the diagnosis ) is that 15q13.3 can have a deletion (which is more common and has been now made into a syndrome) and a duplication (which is less common, and what my wee one has been diagnosed with) but both seem to have similar issues/problems associated with them. 

I assume that you have a genetic doctor,? Maybe they would be able to help you out with your research! X 

...just Googled and found this:

http://sfari.org/news-and-opinion/news/2009/chromosome-15-region-associated-with-autism-also-linked-to-epilepsy

However, this refers to micro-deletions of parts of the chromosome.  Perhaps I am misunderstanding the 23andme data, the types of genetic material it is searching on (bit confusing between chromosomes, genes and SNPs) or I am just misunderstanding genetics as a whole.

I am interested in the genetics of autism.

A while ago I had a 23andme genetic test done, and apparently I have a variant present for Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1).  I have one copy of the variant present not the two needed to have RCDP1, but it states:

Has one copy of the L292X mutation in the PEX7 gene. A person with one of these mutations typically does not have RCDP1, but can pass the mutation to offspring. May have other mutations in the PEX7 gene (not reported here).

I have just read that PEX7 mutations can cause autism (I have Asperger's syndrome):

http://www.sciencedaily.com/releases/2013/01/130123133614.htm?%20Brain%20News%20--%20Autism%29 

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694430/figure/F2/

Just out of interest I searched my genome for information on 15q13.3 and it doesn't find anything on my whole genome.  Now I'm wondering what the absence of this gene means!

The genetic doctor said she would write to camhs about the diagnosis so I will call tomorrow and let them know! X 

I would defo inform camhs... I kept calling them a couple of times a week and it worked i did not wait long at all for appointments and diagnosis..

Good luck..