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Spontan abortuslarda kromozomal düzensizliklerin rolü

The role of chromosomat abnormalities on spontaneous abortions

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Abstract (2. Language): 
İn this study that was performed on spontaneous abortions refferred to Department of Medicial Genetics of Medical Faculty of Selçuk University, detection of the incidence and type of chromosomal abnormalities İn spontaneous abortions was aimed. With this aim; the specimens from 54 spontaneous abortions were successfully cultured and karyotyped by using conventional cytogenetic techniques. 27.8 % of karyotyped abortions were found to have a chromosomal abnormalîty. Autosomai trisomy was the predominant chromosomal abnormaiity and accounted for 53.4 % ali abnormal abortions, foilovved by poliploidy (26.6 %) and monosomy X (20.0 %). Trisomies were consist of trisomy 15, 18 and 21. One mosaic marker was observed in one aborted specimen. Detected poliploidy comprised two tripioidy and two tetraploidy. The obtained findings revealed that chromosomal abnormalities have an important role on etiology of the spontaneous abortions and that for this reason cytogenetic examination of aborted specimens is useful for parent of abortions and for physicians.
Abstract (Original Language): 
Selçuk Üniversitesi Tıp Fakültesi Tıbbi Genetik Laboratuvarına gönderilen düşük materyalleri üzerinde gerçekleştirilen bu çalışmada; düşük materyallerindeki kromozom düzensizliklerinin tip ve İnsidansının belirlenmesi amaçlandı. Bu amaçla 54 düşük materyali geleneksel sitogenetik tekniklerle kültüre alındı ve karyotiplendi. 15 materyalde (%27.8) kromozomal düzensizlik tespit edildi. Bu düzensizlikler arasında en çok trizomilerin yer aldığı saptandı (%53.4). Trizomileri, %26.6 ile poliploidiler ve %20.0 ile monozomi X izlemiştir. Trizomiler; 15, 18 ve 21. kromozomların trizomilerini kapsarken, poliploidilerin yarısını triploidL yarısını da tetraploidi oluşturuyordu. Çalışmadan elde edilen bulgular; kromozomal düzensizliklerin spontan abortusların etyolojisinde önemli bir paya sahip olduğunu ve bu nedenle düşük materyallerinin sitogenetik değerlendirmesinin hem hasta hem de hekim açısından önem taşıdığını göstermektedir.
145-152

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