Yirmibeş Meral KARAOĞUZ, Ece KONAÇ, Ahmet ERDEM, Mehmet ERDEM

Estimates of sperm sex chromosome aneuploidy rates by fluorescence in situ hybridization in low level 47, XXy mosaicism

İnsanda ilk tanımlanan cinsiyet kromozomu anomalisi olan Klinefelter sendromunun yaklaşık % 15'i mozaik olgulardır ki bunlar nadiren diğer formlarda olmakla beraber, sıklıkla 47, XXY ve 46, XY hücre dizilerine sahiptir. Bu çalışmada, düşük oranda 47,XXY/46,XY mozaik (GTG ile %4 oranında) infertil bir olgu sunumu yapılmaktadır. Belirlenen mozaisizm lenfosit hücrelerinde (%4.2) ve sperm nükleuslarmda (%6.9) floresan in situ tekniği ile doğrulanmıştır. Sonuç olarak, mozaik Klinefelter Sendromlu hastalarda, hastanın ne oranda fertil olabileceği ve sonraki kuşakların tahmini karyotiplerini genetik danışmada doğru olarak yorumlayabilmek için, konvansiyonel tekniklerin yanısıra floresan in situ hibridizasyon tekniği de önerilmektedir.

Düşük oranda 47, XXY mozaisizminde, floresan in situ hibridizasyon tekniği kullanılarak sperm cinsiyet kromozomu anöploidi oranının tahmini

Klinefelter syndrome was the first human sex chromosomal abnormality to be reported, and close to 15% are mosaic cases, usually with two cell lines (47,XXY and 46,XY) and rarely with further cell lines. In this report, an infertile patient with low level 47,XXY and 46,XY mosaicism (4% by GTG banding) is presented. This mosaicism was confirmed by fluorescence in situ hybridization in lymphocyte nuclei and in sperm nuclei, 4.2% and 6.9%, respectively. In conclusion, for accurate genetic counseling concerning probands' fertility and estimated karyotypes of their offspring, fluorescence in situ hybridization is recommended in addition to conventional techniques in mosaic Klinefelter syndrome patients.

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