Biomaterial Database

Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter's syndrome. 1993

K Yamauchi

Department of Internal Medicine, Tokai University School of Medicine, Tokyo, Japan.

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.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D007713	Klinefelter Syndrome	A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).	48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes
D008297	Male		Males
D008533	Megakaryocytes	Very large BONE MARROW CELLS which release mature BLOOD PLATELETS.	Megakaryocyte
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D001853	Bone Marrow	The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.	Marrow,Red Marrow,Yellow Marrow,Marrow, Bone,Marrow, Red,Marrow, Yellow
D002894	Chromosomes, Human, Pair 4	A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.	Chromosome 4
D002897	Chromosomes, Human, Pair 7	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 7
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000754	Anemia, Refractory, with Excess of Blasts	Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells.	Leukemia, Smoldering,RAEB,RAEM,Refractory Anemia with Excess of Blasts,Leukemia, Smouldering,Leukemias, Smoldering,Smoldering Leukemia,Smoldering Leukemias,Smouldering Leukemia