Article
Primary osteomyelofibrosis and an XX-male genotype.
European journal of haematology - 1 Sept 2015
Schanz Julie, Haase Detlef, Steuernagel Peter, Shirneshan Katayoo, Bäsecke Jörg
Abstract excerpt
A 62-yr-old man with two healthy daughters was diagnosed with osteomyelofibrosis. To our surprise, a female XX-karyotype was observed in bone marrow and confirmed in PHA-stimulated T-lymphocytes from peripheral blood. Further molecular genetic investigation revealed a submicroscopic translocation between the short arm of X and Y, which leads to an XX-male genotype based on an unbalanced translocation X;Y. This...
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