Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.

IF 0.5 4区医学 Q4 GENETICS & HEREDITY

Balkan Journal of Medical Genetics Pub Date : 2023-07-01 DOI:10.2478/bjmg-2023-0002

M E Yildirim, S Karakus, H K Kurtulgan, L Ozer, S B Celik

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引用次数: 1

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.

Abstract Image

查看原文本刊更多论文

流产材料中多倍体现象作为早期流产的原因。

目的:染色体异常是早期流产的重要原因。本研究的目的是分析自然流产材料中的染色体畸变，并确定染色体数目和结构异常的频率。方法:这是一项前瞻性研究，从一次或多次流产的妇女中获得的92例流产样本被纳入研究。对每个样本进行常规核型分析，以确定可能的染色体异常。结果:经核型分析，流产材料共检出多倍体11例，其中三倍体9例，四倍体2例，三体8例(其中1例为镶嵌体)，单体2例(X单体)，同工染色体1例，Xq缺失1例，易位4例。同染色体和Xq缺失病例也出现嵌合。此外，还发现了5个多态性变异。我们发现多倍体病例的父亲年龄较高。结论:流产材料中最常见的异常是多倍体。其次是非整倍体(三体和单体)。多倍体(三倍体或四倍体)成为自然流产的重要原因。父亲年龄可能与多倍体特别是三倍体有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Balkan Journal of Medical Genetics 医学-遗传学

CiteScore

1.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.