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Son diagnosis today of 15q13.3 micro duplication

NAS11046

Has anyone else been diagnosed with this? Or have any experience of this? 

I have put a previous post up yesterday about waiting 10 months for our camhs appointment for ASD assesment, got 6 months left to wait, does anyone think that I should phone camhs and let them know of this diagnosis and do you think that they might bring our appoitment forward? X 

Parents

  • 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 

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  • 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 

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