Journals / Selçuk Tıp Dergisi / 2001 / Cilt: 17 - Sayı: 3
The role of chromosomal abnormalities on spontaneous abortions
- Journal
- Selçuk Tıp Dergisi
- Pages
- 145–152
- DOI
- —
Abstract
In 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 in 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 abnormality. Autosomal trisomy was the predominant chromosomal abnormality and accounted for 53.4 % all abnormal abortions, followed 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 triploidy 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.
Özet
Selçuk Üniversitesi Tip Fakültesi Tibbi Genetik Laboratuvarina gönderilen düsük materyalleri üzerinde gerçeklestirilen bu çalismada; düsük materyallerindeki kromozom düzensizliklerinin tip ve insidansinin belirlenmesi amaçlandi. Bu amaçla 54 düsük materyali geleneksel sitogenetik tekniklerle kültüre alindi ve karyotiplendi. 15 materyalde (%27.8) kromozomal düzensizlik tespit edildi. Bu düzensizlikler arasinda en çok trizomilerin yer aldigi saptandi (%53.4). Trizomileri, %26.6 ile poliploidiler ve %20.0 ile monozomi X izlemistir. Trizomiler; 15, 18 ve 21. kromozomlarin trizomilerini kapsarken, poliploidilerin yarisini triploidi, yarisini da tetraploidi olusturuyordu. Çalismadan elde edilen bulgular; kromozomal düzensizliklerin spontan abortuslarin etyolojisinde önemli bir paya sahip oldugunu ve bu nedenle düsük materyallerinin sitogenetik degerlendirmesinin hem hasta hem de hekim açisindan önem tasidigini göstermektedir.