Cytogenetic findings in Serbian patients with Klinefelter syndrome

Abstract

Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans (1/600 newborn males). The most widespread karyotype in affected patients is 47,XXY, but various others have been described. The aim of this study was to examine the karyotypes of a group of patients suspected of having Klinefelter's syndrome. Between January 1993 and April 2018 104 adult KS patients were evaluated. Cytogenetic analysis was carried out on metaphases obtained from phytohemagglutinin-stimulated peripheral lymphocytes using a standard procedure. Fluorescence in situ hybridization (FISH) analysis was performed on peripheral blood specimens. Vysis CEP X/Y- alpha satellite DNA probes were used to detect X and Y chromosomes. We identified KS presenting the ?standard? or 47,XXY karyotype in eighty three (80%) patients, while five (5%) KS patients showed the mosaic karyotype 47,XXY/46,XY and three (3%) patients had the mosaic karyotype 47,XXY/46,XX. In six (6%) cases KS patients with the ?standard? karyotype also had autosomal chromosomal abnormalities, while numerical sex chromosome abnormalities, with karyotypes 48,XXYY occurred in two (2%) subjects, 47,XYY in three (3%) and 47,XYY/46,XY in two (2%) individuals. Thus, most of our KS patients had the 'standard', 47,XXY karyotype, but some men formed a group of patients with a diversity of other karyotypes. These disparate chromosomal variants may have different physical and mental implications for the general symptomatology of KS. Therefore, it is important to determine the nature of the karyotype of every male with clinical characteristics of KS in very early childhood in order to initiate an adequate, personalized, medical approach.