<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Objectives</h3>
<p>Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials.</p>
</sec>
<sec><h3>Methods</h3>
<p>This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities.</p>
</sec>
<sec><h3>Results</h3>
<p>By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases.</p>
</sec>
<sec><h3>Conclusion</h3>
<p>The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.</p>
</sec>
</abstract>

Objectives
Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials.

Methods
This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities.

Results
By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases.

Conclusion
The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Department of Medical Genetics, Faculty of Medicine

Department of Obstetrics and Gynecology, Faculty of Medicine

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials"}

Objectives
Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations...

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Article Category: Original Article

Published Online: Jul 31, 2023

Page range: 5 - 10

DOI: https://doi.org/10.2478/bjmg-2023-0002

Keywords
Chromosomal abnormality, polyploidy, miscarriage, abortion materials

© 2023 ME Yildirim et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Article Category: Original Article

Published Online: Jul 31, 2023

Page range: 5 - 10

DOI: https://doi.org/10.2478/bjmg-2023-0002

KeywordsChromosomal abnormality, polyploidy, miscarriage, abortion materials

© 2023 ME Yildirim et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
Chromosomal abnormality, polyploidy, miscarriage, abortion materials