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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 and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials. METHODS: This was a pr...

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Autores principales: Yildirim, ME, Karakus, S, Kurtulgan, HK, Ozer, L, Celik, SB
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413878/
https://www.ncbi.nlm.nih.gov/pubmed/37576791
http://dx.doi.org/10.2478/bjmg-2023-0002
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author Yildirim, ME
Karakus, S
Kurtulgan, HK
Ozer, L
Celik, SB
author_facet Yildirim, ME
Karakus, S
Kurtulgan, HK
Ozer, L
Celik, SB
author_sort Yildirim, ME
collection PubMed
description 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.
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spelling pubmed-104138782023-08-11 Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials Yildirim, ME Karakus, S Kurtulgan, HK Ozer, L Celik, SB Balkan J Med Genet Original Article 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. Sciendo 2023-07-31 /pmc/articles/PMC10413878/ /pubmed/37576791 http://dx.doi.org/10.2478/bjmg-2023-0002 Text en © 2023 ME Yildirim et al., published by Sciendo https://creativecommons.org/licenses/by-nc-nd/3.0/This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Original Article
Yildirim, ME
Karakus, S
Kurtulgan, HK
Ozer, L
Celik, SB
Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
title Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
title_full Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
title_fullStr Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
title_full_unstemmed Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
title_short Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
title_sort polyploidy phenomenon as a cause of early miscarriages in abortion materials
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413878/
https://www.ncbi.nlm.nih.gov/pubmed/37576791
http://dx.doi.org/10.2478/bjmg-2023-0002
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