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

Abstract

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 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.

Congenital heart disease in the 48,XXYY syndrome

“…These cases were retrieved from literature reports overseeing a total of 63 patients with the 48,XXYY syndrome (50 of 53 cases rereviewed from the survey of Borgaonkar et al (1 970) and a total of another 13 patients in Bloomgarden et al (1980), Gilgenkrantz et al (1976), Grammatico et al (1990), Kodama et al (1992), Neugebauer et al (1991), Parker et al (1970, Sorensen et al (1978), Sourial & Fenton (1988 and Vigi et al (1978)). Only reports on 31 of these 63 cases contain clinical information on the cardiac status of the probands.…”

Pseudothrombocytopenia

“…Rare cases of psudothrombocytopenia are described at chromosomal aberrations such as 48, XXYY syndrome (47 XXY / 48 XXYY mosaicism) [8].…”