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Case Report

Renal tumor presenting with priapism: Case report


1 Şifa Üniversitesi Tıp Fakültesi Bornova Sağlık Uygulama ve Araştırma,Genetik Tanı Merkezi-İzmir

2 Şifa Üniversitesi Tıp Fakültesi Bornova Sağlık Uygulama ve Araştırma Üroloji-İzmir


DOI :
New J Urol. 2013; 8 (2): 69-71

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.


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.