Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease
- 1 January 1988
- journal article
- research article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 48 (4) , 224-227
- https://doi.org/10.1159/000132633
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 karyo-typing showed a -6, + der(6)t(1;6)(q12;p25) rearrangement and, two years later, a mosaic-6,-1-der(6), t(1:6)(q12;p25)/-2, +der 2), t(l;2)(q12;q37) constitution. The chromosome mechanism operating in this patient is discussed.Keywords
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