48, XXYY Syndrome Associated with Ethylenediaminetetraacetic Acid(EDTA)-dependent Pseudothrombocytopenia

Takahito KODAMA, Hirokazu IMAI, Yasushi NAKAMOTO, Tamotsu SUGAWARA, Akira B MIURA
1992 Internal medicine (Tokyo. 1992)  
A 56-yr-old man with hypogonadism, gynecomastia, and mental retardation was evaluated for chromosome constitution and thrombocytopenia. Chromosomal analysis demonstrated the mosaicism of 48, XXYY and 47, XXY in the peripheral lymphocytes. Twenty out of twenty-five cells were 48, XXYY karyotype and the remaining five were 47, XXY karyotype. Thrombo cytopenia was the EDTA-dependent pseudothrombocytopenia type 1 (platelet agglutination). Serological examination suggests that the platelet
more » ... platelet agglutinin belongs to IgM-kappa type. The present case exhibited both EDTA-dependent pseudothrombocytopenia and the 48, XXYY syndrome. Although this combination may have occurred purely by chance, the possibility of whether or not the mosaicism of lymphocytes produces platelet agglutinin remains to be clarified.
doi:10.2169/internalmedicine.31.143 fatcat:2wyszegzcfeqrmyrfnlo4a3hrm