Bir Klinefelter sendromu olgusunda mozaik karyotip

Abstract

Klinefelter Sendromu en sık rastlanılan seks kromozom anomalisidir. Klinefelter sendromu infertilitenin en sık genetik nedenleri arasındadır. İnfertilite olgularında olası kromozomal anöploidinin saptanması için kromozom analizi altın standarttır. Klinefelter Sendromu bulunan olguların yaklaşık %15’inde karyotip mozaiktir. Kromozomal olarak Klinefelter sendromu tanısı konulan olgularda mutlaka genetik In the cases that are diagnosed with chromosodanışma önerilmektedir. Kromozomal anöplomal Klinefelter’s syndrome, genetic consultancy idisi olan olgular modern üreme teknolojileri ile yardım alabilmektedirler. İnfertil olgumuzda olası kromozom anomalisi nedeniyle periferik kandan kromozom analizi yaptık. Karyotipi 47,XXY 82 /46,XX 16 /46,XY 2 olarak saptadık. Periferik kan ve deri fibroblast hücrelerinde FISH analizi yaparak mozaisizm varlığını doğruladık

Keywords

• Klinefelter sendromu,infertilite,kromozom analizi,mozaisizm,FISH

Mosaic karyotype in a case of Klinefelter syndrome

Abstract

Klinefelter Syndrome is the most common sex chromosomal anomaly. Klinefelter syndrome is among the most common genetic causes of infertility. Chromosome analysis for the detection of possible chromosomal aneuploidy in cases of infertility is the gold standard. Approximately 15% of the patients with Klinefelter’s syndrome have mosaic karyotype. In the cases that are diagnosed with chromosomal Klinefelter’s syndrome, genetic consultancy is strictly recommended.Patients with chromosomal aneuploidy can receive help with modern reproductive technologies. We have made chromosome analysis from peripheral blood in our infertile case, because of chromosomal anomaly possibility.We have detected that the karyotype 47,XXY 82 /46,XX 16 /46,XY 2 We confirmed the presence of mosaicism in peripheral blood and skin fibroblast cells by FISH analysis

Keywords

• Klinefelter syndrome,infertility,chromosome analysis,mosaicism,FISH

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