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Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi
2009, Cilt 23, Sayı 3, Sayfa(lar) 165-167
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Dual Color Sperm FISH Analysis in a Patient With Non Robertsonian Translocation 46,XY,t(11;22)(q23;q11)
Şükriye Derya DEVECİ1, Ebru ÖNALAN ETEM1, Sema ÖZKAN2, Hüseyin YÜCE1
1Fırat Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Elazığ, TÜRKİYE
2Yıldırım Beyazıt Eğitim Araştırma Hastanesi, Kadın Hastalıkları ve Doğum Polikliniği, Ankara, TÜRKİYE
Keywords: ranslocation, recurrent abortion, sperm FISH

Translocation of t(11;22)(q23;q11) is one of the most common balanced constitutional reciprocal translocations observed in men. Balanced carriers are phenotypically normal and they have no clinical sign until diagnosed during the investigations for infertility or following the birth of chromosomally unbalanced offspring. It is known that genetic aberrations are important and stand within the identifiable etiologic factors of recurrent abortuses. In this case report, parental chromosome analysis was performed in a woman with an obstetric history of recurrent abortuses who gave a live birth. In this case, woman showed normal karyotype but her husband and father-in-love both carried balanced reciprocal translocation with the karyotype 46,XY,t(11;22)(q23;q11.2) in all the metaphases examined. We have used a dual color fluorescence in situ hybridization (FISH) with specific DNA probes in sperm samples to determine the chromosome segregation pattern of this translocation in the carrier male. The probes selected include a centromeric marker for chromosome 11 and the other probe distal to the translocation breakpoint of chromosome 22. 200 cells were evaluated for the determination of segregation rate. FISH ananlyses showed that 3:1 segregation rate was present in patient's spermatozoa. This segregation ratio is consistent with of the general segregation ratios of balanced translocation carriers. Sperm FISH analysis is an effective method to detect the segregation proportion in men with balanced chromosomal translocation carriers.

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