Abdullah Barış AKCAN, Osman Koray BODUROĞLU

TURNER SENDROMLU HASTALARDA Y KROMOZOM DİZİLERİNİN FLORESAN İN SİTU HİBRİDİZASYON (FISH) YÖNTEMİYLE BELİRLENMESİ

somatik anomalilerle karakterize kromozomal bir hastalıktır. TS’lu bireylerin % 55’i nonmozaik 45,X karyotipine sahiptir. Hastaların %5’inde Y kromozomu taşıyan bir hücre dizisi vardır. Bu standart sitogenetik analizlerle gösterilemez. Bazı TS’lı bireylerde Y kromatinin tespiti gonadoblastom gelişmesi ile ilişkili olabilir. Bu yüzden TS’lu bireylerde Y kromatinin varlığının gösterilmesi önemlidir. Bu çalışmada floresan in situ hibridizasyon (FISH) analizi ile TS’lı bireylerden Y tüm kromozom probları (W.C.P: Whole Chromosome Prob) yardımıyla Y kromatini açısından mosaizm gösteren vakaların tespiti planlandı. Gereç ve Yöntem: Genetik Ünitesi’nde izlenmekte olan 44 Turner sendromlu hastanın dosya kayıtlarından adres ve telefon numaralarına ulaşılarak çalışma için davet edildiler. Davet edilen 44 hastadan 28’i davete cevap vermiştir. Bu çalışmada, Y tüm kromozom prob (W.C.P: Whole Chromosome Prob) yardımıyla Y kromatini açısından mosaizm gösteren TS’lu hastaların tespiti planlanmıştır. Bulgular: Çalışmaya katılan vakaların çoğunluğu (%71.42) klasik Turner sendromu karyotipi olan saf X monozomisi taşımaktaydı. İzole veya mozaik formlar halindeki diğer yapısal X kromozomu aberasyonları daha az sıklıkla temsil edilmekteydi. Turner sendromlu 28 vakada FISH metodu ile Y tüm kromozom prob (W.C.P: Whole Chromosome Prob) kullanılarak Y kromozom dizileri aranmış; 28 vakadan bir vakada (%3.5) Y kromozom dizisi tespit edilmiştir. Sonuç: Turner Sendromlu bireylerin Y kromatini açısından taranması önerilmektedir. Bunun tespiti, Turner Sendromlu bireye özellikle gonadoblastom geliştirme riski açısından ileri klinik danışma ile bilgilendirmeyi ve yönlendirmeyi sağlayacaktır. Bu çalışma bunun önemini vurgulamak amacıyla yapılmıştır.

MOLECULER ANALYSIS OF Y CHROMOSOME BY FLUORESCENCE IN SITU HYBRIDIZATION (FISH) METHOD IN TURNER SYNDROME PATIENTS

Introduction: TurnerSyndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads,primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition ,a cell line with a Y chromosome is present in 5 % of patients. That is undetectable by standart cytogenetic analysis. The identification of Y chromatin in some TS individuals has been associated with development of gonadoblastoma. Therefore, it is important to exclude the presence of Y chromatin in TS individuals.In this study, it was planned to detect cases with mosaicism in terms of Y chromatin with the help of Y whole chromosome probes (W.C.P: Whole chromosome Probe) from individuals with TS by fluorescent in situ hybridization (FISH) analysis. Material and Method: The addresses and phone numbers of 44 patients with Turner syndrome who were being followed up in the Genetics Unit were contacted and invited for the study. Of the 44 invited patients, 28 responded to the invitation.In this study, it was planned to detect TS patients with mosaicism in terms of Y chromatin with the help of Y whole chromosome probe (W.C.P: Whole Chromosome Probe). Results: The majority of the cases (71.42%) included in the study carried pure X monosomy, which is the classical Turner syndrome karyotype.Other structural X chromosome aberrations, in isolated or mosaic forms, were less frequently represented. Y chromosome sequences were searched in 28 cases with Turner syndrome by FISH method using Y whole chromosome probe (W.C.P: Whole Chromosome Probe). Y chromosome sequence was detected in one (3.5%) case of 28 cases. Conclusion: It is recommended that individuals with Turner Syndrome be screened for Y chromatin. Detection of this will provide information and guidance to individuals with Turner Syndrome, especially in terms of the risk of developing gonadoblastoma, with advanced clinical consultation. This study was conducted to emphasize the importance of this.

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