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Hi, I just wanted to say thanks anyway but the lack of response is an answer in itself. I assume that no one else has had these tests or at least tested positive for these tests. Oh well, I need to make my doctor hang around for more than 30secs and answer my questions.
Chirley
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Copper deficiency bone marrow failure (MDS RAEB 1), neuromyelopathy.
FISH reported normal cytogenetics but gene testing showed
Xq 8.21 mutation
Xq19.36 mutation
Xq21.40. mutation
1p36. Mutation
15q11.2 deletion
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