Abstract
A 21-year-old Fanconi anemia patient developed refractory anemia. Laboratory studies revealed a transitory increased platelet count and a typical del(5q). Bone marrow karyotyping showed a -6, +der(6)t(1;6)(q12;p25) rearrangement and, two years later, a mosaic -6, +der(6),t(1:6)(q12;p25)/-2, +der 2), t(1;2)(q12;q37) constitution. The chromosome mechanism operating in this patient is discussed.
MeSH terms
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Adult
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Anemia, Aplastic / genetics*
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Bone Marrow / pathology*
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Bone Marrow / ultrastructure
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Cell Nucleus / ultrastructure
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Chromosome Aberrations / pathology*
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Chromosome Disorders
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Chromosomes, Human, Pair 1 / ultrastructure*
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Chromosomes, Human, Pair 5 / ultrastructure*
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Fanconi Anemia / genetics*
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Fanconi Anemia / pathology
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Humans
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Karyotyping*
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Lymphocytes / pathology
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Lymphocytes / ultrastructure
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Male
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Sex Chromosome Aberrations / pathology
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X Chromosome / ultrastructure*