Studie zur Häufigkeit und Art von Chromosomenanomalien unter frühen Spontanaborten ohne in vitro Wachstum - Retrospektive Untersuchung mittels Comparativer Genomhybridisierung (CGH)

Die CGH ist eine molekularzytogenetische Methode, welche chromosomale Imbalancen durch reverse Floureszenz-in-situ-Hybridisierung zuverlässig aufdecken kann. Dadurch dass ausschließlich genomische DNA und keine Metaphasen des zu untersuchenden Materials benötigt werden, umgeht die CGH damit die Eins...

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Bibliographic Details
Main Author: Pircher, Marion
Contributors: Fritz, Barbara (Dr.) (Thesis advisor)
Format: Doctoral Thesis
Language:German
Published: Philipps-Universität Marburg 2007
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In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the prodominant chromosome anomaly accounting for 68,3% of abnormal abortions, followed by triploidy (17,1%) and monosomy X (9,8%). An unbalanced structural rearrangement was found in one (2,4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32,1%), 7 and 22 (10,7% each), 4, 13, 15, and 21 (7,2% each).