Snoweh (goddesssnoweh) wrote,
Snoweh
goddesssnoweh

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Arrgghh!

The content of the previous posting inspired me to have a little search round to try and find some relevant information about the genetic disorder that Andrew and I have.

Unfortunately there is a severe lack of anything about the specific deletion out there, and anything i did find was part of medical journals and genome projects and way, way out of my depth. I can understand most things when i put my mind to it but this stuff was just rediculous.

So ATM i'm feeling frustrated, but also slightly brain fried

There are alot of links out here for a syndrome called 'cri du chat' which is what it's most closely linked to. this is when chromosome 5p 15 (zoom in (right click) on the top part of the chromosome and section 15 comprises the top three bands)is missing, or deleted. This is more severe than what Andrew and I have and there are alot of links to be found from searching online. What we have is where section 15.3 is missing, which as u see it on the flash diagram i previously linked to is the top band, producing some symptoms of Cri Du Chat but in most cases not nearly as severe. Of course no one can say from one person to the next how it's going to affect them and i have been advised that (quote) any future children i have stand a 50% chance of inheriting the disorder, and whilst it might be milder in the next child, it could also be more severe. (unquote) This was quite upsetting to hear obviously, even more upsetting was when my mother suggested that i should think seriously about getting myself sterilised.
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