Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present.
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PMID:Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. 371 99

Groups or conglomerations of darkly stained chromosomes (GDSC) observed in this study appeared to be artifacts as they were strictly technique dependent. Two methods of cell fixation were compared. In method I, fixative was added drop by drop to cell pellets and agitated continuously over a rotamixer. In method II, a few drops of fixative were added to hypotonic solution suspended with cells and mixed using a Pasteur pipette. In 11 patients with acute myeloid leukemia (AML) and in one patient with preleukemia studied using method I, no GDSC were found in the total of 325 metaphases examined. In 36 patients with AML, one with Klinefelter's syndrome and one with neutropenia studied using method II, GDSC were found in 18 patients. A further comparative study using different methods for cell fixation was performed in three patients. The frequency of cells with GDSC varied sharply with different methods used in two patients. In one patient the cells with GDSC were analyzed in detail. The number of darkly stained chromosomes in each cell was found to vary from 4 to 14 with a mean of 8.26 and D- and G-group chromosomes were preferentially involved.
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PMID:Groups of darkly stained chromosomes may be artifacts. 619 58

We report the case of a 40-year-old man with Klinefelter's syndrome who presented with a complex multisystem illness, the predominant manifestations of which were rheumatological and cardiological. This disorder coincided with a diagnosis of acute myelogenous leukemia evolving out of a myelodysplastic syndrome and resolved completely after chemotherapy. It is concluded that the hematological malignancy probably played a causal role in the development of this unusual illness which was likely immunologically mediated.
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PMID:Unusual rheumatological and cardiological manifestations of acute myelogenous leukemia in a patient with Klinefelter's syndrome. 834 77

We report herein a patient with Klinefelter's syndrome associated with refractory anemia with excess of blasts in transformation, a subtype of myelodysplastic syndrome (MDS). The MDS developed with karyotypic abnormality involving t(4;7)(q21;q11), and was characteristic of marked thrombocytosis and marrow infiltration by many atypical megakaryocytes. The patient also had diabetes mellitus and a disturbed immune system. To our knowledge, this is the fifth reported case of MDS in patients with Klinefelter's syndrome in the literature.
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PMID:Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter's syndrome. 848 Apr 86

A 65-year-old Japanese male with therapy-related myelodysplastic syndrome was admitted for unrelated cord blood transplantation. A cord blood unit from a male donor was obtained from the Japan Cord Blood Bank Network. The patient then received a conditioning regimen consisting of fludarabine, intravenous busulfan, and total body irradiation. Successful engraftment was obtained. The bone marrow examination on day 28 revealed trilineage engraftment, and chimerism analysis by variable number of tandem repeat polymerase chain reaction confirmed complete donor chimerism. At that time, conventional cytogenetics of the bone marrow aspirate showed 20 out of 20 metaphases with the 47, XXY karyotype characteristic of Klinefelter syndrome. Klinefelter syndrome is the most common genetic cause of human male infertility with a reported prevalence of 0.1-0.2% in the general population. In Japan Cord Blood Bank Network, there is no informed consent from parents about the possibility that post-unrelated cord blood transplantation patient evaluation may reveal donor-origin inherited diseases including cytogenetic abnormality. It is desirable to have opportunities in Japan discussing whether parents will be notified of the possibility that post-unrelated cord blood transplantation evaluation may reveal donor-derived illness incidentally.
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PMID:Donor-derived 47, XXY in an unrelated cord blood transplant recipient. 2455 74