A case of Turner syndrome with the karyotype of 45,X/46,X,i(Xq) associated with acute monocytic leukemia.

An infertile 37-year-old woman was diagnosed as having acute monocytic leukemia (AMoL) (FAB classification; M5b). In addition, a diagnosis of infertile Turner syndrome was made, based on the presence of the ovarian dysplasia, abnormal physical features (short stature, lack of pubic hair, shield-like chest, etc.), and low urinary estrogen excretion with high plasma gonadotropin level. Karyotypes in the peripheral blood and bone marrow cells were mosaic 45,X and 46,X,i(Xq): isochromosome Xq, which were consistent with infertile Turner syndrome. No further chromosomal abnormalities were found during the course of her treatment for leukemia. This is the first report of the combination of Turner syndrome and AMoL. However, this patient did not have any of the other autosomal chromosomal abnormalities which are common in acute non-lymphocytic leukemias.