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Primary osteomyelofibrosis and an XX ‐male genotype
Author(s) -
Schanz Julie,
Haase Detlef,
Steuernagel Peter,
Shirneshan Katayoo,
Bäsecke Jörg
Publication year - 2015
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12555
Subject(s) - chromosomal translocation , azoospermia , genotype , karyotype , cytogenetics , biology , genetics , bone marrow , andrology , microbiology and biotechnology , gene , chromosome , medicine , immunology , pregnancy , infertility
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 USP 9Y 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.