Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome |
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Authors: | Aktas D Koc A Boduroglu K Hicsonmez G Tuncbilek E |
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Affiliation: | Department of Genetics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey. |
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Abstract: | Bloom syndrome is a genomic instability syndrome associated with predisposition to development of various types of malignancy. In this report, we described a 7-year-old boy with Bloom syndrome (BS) and myelodysplastic syndrome (MDS) associated with monosomy 7 and loss of the Y chromosome. To our knowledge, this was the first case with BS showing monosomy 7 and MDS during the early childhood period. |
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