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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

  • 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 

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  • 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 

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