Yildirim M E, Karakus S, Kurtulgan H K, Ozer L, Celik S B
Department of Medical Genetics, Faculty of Medicine, Sivas Cumhuriyet University, 58104 Sivas, Turkey.
Department of Obstetrics and Gynecology, Faculty of Medicine, Sivas Cumhuriyet University, 58104 Sivas, Turkey.
Balkan J Med Genet. 2023 Jul 31;26(1):5-10. doi: 10.2478/bjmg-2023-0002. eCollection 2023 Jul.
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.
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.
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.
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.
染色体异常是导致尤其是早期流产的一个重要原因。本研究的目的是分析染色体畸变情况，并确定自然流产组织中染色体数目和结构异常的频率。
这是一项前瞻性研究，研究纳入了92例有过一次或多次流产经历的女性的流产样本。对每个样本进行常规核型分析，以确定可能存在的染色体异常。
通过核型分析，在流产组织中检测到11例多倍体病例（9例三倍体和2例四倍体）、8例三体（其中1例为嵌合体）、2例单体（X单体）、1例等臂染色体、1例Xq缺失和4例易位。等臂染色体和Xq缺失病例也是嵌合体。此外，还发现了5种多态性变异。我们发现多倍体病例中的父亲年龄较大。
我们在流产组织中发现的最常见异常是多倍体。其次是非整倍体（三体和单体）。多倍体（三倍体或四倍体）是自然流产病例中的一个重要原因。父亲年龄可能与多倍体尤其是三倍体有关。
