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Chromosome deletion

2 replies

lauryloo · 20/10/2016 19:51

Does anyone have any experience of a chromosome deletion?

My 16 month old has a deletion on chromosome 2 q, although I didn't get the exact details

She has raised ck levels and a development delay but I've no idea how this will impact her long term

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coff33andChoc · 21/10/2016 17:47

Have you been in contact with Unique? I'd recommend you join them.

www.rarechromo.co.uk/html/home.asp

Unless you know the specifics of the deletion (2q is not specific at all), you won't really be able to find anything about your child's deletion. I would request the complete report from the microarray testing from your geneticist. I think Unique want the details too if you want to join.

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lauryloo · 23/10/2016 21:32

Thank you. I was that shocked I didn't get the full details, but I must contact the consultant and find out the exact area of deletion.

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