Klinefelter Syndrome is the most com-mon sex chromosomal anomaly. Klinefelter syndrome is among the most common gene-tic causes of infertility. Chromosome analysis for the detection of possible chromosomal ane-uploidy in cases of infertility is the gold stan-dard. Approximately 15% of the patients with Klinefelter’s syndrome have mosaic karyotype. In the cases that are diagnosed with chromoso-mal Klinefelter’s syndrome, genetic consultancy is strictly recommended.Patients with chromo-somal aneuploidy can receive help with modern reproductive technologies. We have made chro-mosome analysis from peripheral blood in our infertile case, because of chromosomal ano-maly possibility.We have detected that the kar-yotype 47,XXY(82)/46,XX(16)/46,XY(2)We confirmed the presence of mosaicism in perip-heral blood and skin fibroblast cells by FISH analysis.
Key Words: Klinefelter syndrome, infer-tility, chromosome analysis, mosaicism, FISH.
Abstract
Klinefelter Syndrome is the most com-mon sex chromosomal anomaly. Klinefelter syndrome is among the most common gene-tic causes of infertility. Chromosome analysis for the detection of possible chromosomal ane-uploidy in cases of infertility is the gold stan-dard. Approximately 15% of the patients with Klinefelter’s syndrome have mosaic karyotype. In the cases that are diagnosed with chromoso-mal Klinefelter’s syndrome, genetic consultancy is strictly recommended.Patients with chromo-somal aneuploidy can receive help with modern reproductive technologies. We have made chro-mosome analysis from peripheral blood in our infertile case, because of chromosomal ano-maly possibility.We have detected that the kar-yotype 47,XXY(82)/46,XX(16)/46,XY(2)We confirmed the presence of mosaicism in perip-heral blood and skin fibroblast cells by FISH analysis.
Key Words: Klinefelter syndrome, infer-tility, chromosome analysis, mosaicism, FISH.