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PLEASE SOMEONE TELL ME WHAT TO DO??? - Carers UK Forum

PLEASE SOMEONE TELL ME WHAT TO DO???

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I have a dilemna - I got sophie's diagnosis in writing but its not fair they arent seeing what I see.

First off - my chromosome is ring 21 - I have one shaped like a sausage and another shaped in a ring... where information was deleted in the ring and the ends formed to make the ring shape. The ring apparently is large and unstable.

I passed this onto all 3 of my children and sophie has a duplication of the whole 21 chromosome aswell.... but the geneticist who tested her seems to be ignoring the fact that she has a ring in her normal chromosome pattern and that the duplication is the 21 - instead they are saying that in 9 out of 130 cells she has a ring - where they are forgetting she has a full set of cells with the duplication of the 'sausage' shaped 21 chromosome - effectively if I had a normal shaped 21 and not a ring - and sophie had the duplication as she already does - she would be classed as 'Downs Syndrome' and not mosaic downs syndrome...... But in the letter it says 'she is effectively trisomic 21' - so does this mean they are saying she IS Downs Syndrome.

Why cant they be clearer - and how can I get her diagnosis looked at again? - APPARENTLY - the information deleted in her ring - is the reason why she doesnt look downs syndrome??????
Marion, the only thing I can think of is ask for a second opinion - or at least ask to meet with the geneticist to discuss their findings with you - it's all gobbledegook to me!