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染色体异态性在反复流产的夫妇中更为常见。

Chromosome heteromorphisms are more frequent in couples with recurrent abortions.

作者信息

Akbaş H, Isi H, Oral D, Türkyılmaz A, Kalkanlı-Taş S, Simşek S, Balkan M, Sakar M N, Fidanboy M, Alp M N, Budak T

机构信息

Department of Medical Biology, Medical Faculty, University of Harran, Şanlıurfa, Turkey.

出版信息

Genet Mol Res. 2012 Nov 12;11(4):3847-51. doi: 10.4238/2012.November.12.1.

Abstract

Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.

摘要

染色体异态性被认为是正常核型的一种变异,但在反复流产的夫妇中更为常见。我们将反复流产的夫妇与对照组进行比较,研究了他们的染色体异态性。共有455对申请土耳其迪亚巴克尔我们遗传诊断实验室检测的夫妇接受了染色体异态性评估;其中221对夫妇(研究组)有反复流产史,另外234对夫妇(对照组)没有流产史且至少有一个存活子女。发现反复流产夫妇的患者组染色体异态性发生率(8.4%)明显高于对照组(4.9%)。当根据性别对患者进行评估时,男性的染色体异态性发生率(11.3%)明显高于女性(5.4%)。我们得出结论,由于反复流产的夫妇和男性染色体异态性发生率较高,在反复流产的病因调查中不应忽视异态性病例。应进一步开展研究以调查染色体异态性的表型效应。

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