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The first BMB I ever had the female Registrar was grunting and groaning and I asked her if she was okay back there, she said my bone was tough and she hurt her hand. I replied that I felt sorry for her. All this while I was supposed to be sedated. I remember it vividly.
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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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