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Our mid-term follow-up results in bladder tumors below 40 years of age


1 VM Medical Park Pendik Hastanesi Üroloji Kliniği, İstanbul, Türkiye

2 Sağlık Bilimleri Üniversitesi, Sultan Abdulhamid Han Eğitim ve Araştırma Hastanesi, Üroloji Anabilim Dalı, İstanbul, Türkiye

3 Kütahya Sağlık Bilimleri Üniversitesi Üroloji Anabilim Dalı, Kutahya, Türkiye

4  Sağlık Bilimleri Üniversitesi, Fatih Sultan Mehmet Eğitim ve Araştırma Hastanesi Üroloji Anabilim Dalı İstanbul, Türkiye


DOI :
New J Urol. 2018; 13 (2): 20-25
Abstract

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.

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