Evidence for the clonal origin of acquired hypomegakaryocytic thrombocytopenic purpura from a sex chromosome mosaic.
Cytogenetic studies performed on a 79-year-old female presenting with clinical and hematologic features of acquired hypomegakaryocytic thrombocytopenic purpura revealed sex chromosome mosaicism in blood lymphocytes (45,X/46,XX/47,XXX). The presence of only 45,X cells in the bone marrow is consistent with a unicellular origin of acquired hypomegakaryocytic thrombocytopenia in this patient. These studies also suggest that, in some instances, this disorder may originate at the level of the pluripotent hematopoietic stem cell.
D000368:Aged; D001853:Bone Marrow / Q000473:pathology; D002999:Clone Cells / Q000473:pathology; D005260:Female; D006801:Humans; D011696:Purpura, Thrombocytopenic / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics