title: Primary osteomyelofibrosis and an XX-male genotype.
abstract: 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 rare coincidence was further accentuated as the USP9Y gene, suspected to be to be involved in sperm cell production, was absent, but no azoospermia was present. In general, routine cytogenetics may result in findings that need to be further delineated and, as here, lead to a rare observation.
authors: Department of Hematology and Medical Oncology, University Medicine of Göttingen, Göttingen, Germany.
authors: Julie
authors: J
authors: Schanz
authors: Department of Hematology and Medical Oncology, University Medicine of Göttingen, Göttingen, Germany.
authors: Detlef
authors: D
authors: Haase
authors: Institute of Clinical Genetics, Klinikum Oldenburg, Oldenburg, Germany.
authors: Peter
authors: P
authors: Steuernagel
authors: Department of Hematology and Medical Oncology, University Medicine of Göttingen, Göttingen, Germany.
authors: Katayoo
authors: K
authors: Shirneshan
authors: Department of Hematology and Oncology, St. Josefs-Hospital, Cloppenburg, Germany.
authors: Jörg
authors: J
authors: Bäsecke
mesh_terms: D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D055728:Primary Myelofibrosis / Q000175:diagnosis* / Q000235:genetics*; D012732:Sex Determination Analysis; D013601:T-Lymphocytes / Q000378:metabolism
keywords: SRY; USP9Y; XX-male; osteomyelofibrosis