生殖问题妇女X染色体异常的类型和频率。

IF 1.7 4区 生物学 Q4 CELL BIOLOGY
Cytogenetic and Genome Research Pub Date : 2023-01-01 Epub Date: 2023-10-03 DOI:10.1159/000534428
Elisavet Kouvidi, Haralambia Tsarouha, Sophia Zachaki, Christina Katsidi, Hara Tsimela, Amelia Pantou, Emmanuel Kanavakis, Ariadni Mavrou
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引用次数: 0

摘要

X染色体的结构和完整性对正常卵巢功能至关重要。X染色体的数量和结构异常在女性不育中都起着重要作用。本研究旨在确定因生殖问题而被转诊进行细胞遗传学调查的女性中检测到的X染色体畸变的类型和频率。2936名女性(平均年龄:37.5岁)参与了本研究。外周血核型分析采用常规细胞遗传学技术。对于每名女性,研究了20个G带中期,在怀疑嵌合体的情况下,分析扩展到100个中期。2588/2936(88.15%)的女性核型正常(46,XX),348/2936(11.85%)的女性染色体核型异常。32名女性(1.09%)患有常染色体异常,316名女性(10.76%)患有X染色体重排。在311/2936名女性(10.59%)中,检测到X染色体数量畸变(低水平嵌合),在5/2936例(0.17%)中检测到X结构异常(两例中心周围倒置,一例Xq缺失,两例45,X嵌合,一例具有Xp缺失细胞系,另一例具有等染色体Xq细胞系)。与年轻女性(92.93%对7.07%)相比,35岁以上女性的低水平X嵌合体是一种常见现象,这一发现与X染色体随年龄增长而丢失一致。其他X染色体异常在年轻女性中检测到(32.3±4.13 vs.41.04±4.5岁)。特纳样表型女性的平均年龄为28.75±6.6岁。这项研究证实,有生育问题的女性X染色体异常的发生率增加,核型是鉴定她们的金标准。在这些情况下,建议进行基因咨询,以提供有关可用治疗和生育选择的信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.

Introduction: X chromosome architecture and integrity are essential for normal ovarian function. Both numerical and structural X chromosome abnormalities play an important role in female infertility. This study aimed to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems.

Methods: 2,936 women (average age: 37.5 years) were enrolled in the present study. Peripheral blood karyotyping was performed by conventional cytogenetic techniques. For each woman, 20 G-banded metaphases were studied and in case of suspected mosaicism, analysis was extended to 100 metaphases.

Results: 2,588/2,936 (88.15%) of women had a normal karyotype (46,XX), while 348/2,936 (11.85%) had an abnormal one. Thirty-two women (1.09%) carried autosomal chromosome abnormalities and 316 (10.76%) had X chromosome rearrangements. In 311/2,936 women (10.59%), X chromosome numerical aberrations were detected (low-level mosaicism), and in 5/2,936 cases (0.17%), X structural abnormalities (two with pericentric inversion, one with Xq deletion and two 45,X mosaics, one with an Xp deletion cell line and the other with isochromosome Xq cell line). Low-level X mosaicism was a common finding in women >35 years as compared to younger ones (92.93% vs. 7.07%), a finding consistent with loss of chromosome X with aging. Other X chromosome abnormalities were detected in younger women (32.3 ± 4.13 vs. 41.04 ± 4.5 years). The mean age of women with Turner-like phenotype was 28.75 ± 6.6 years.

Conclusion: The study confirms that the incidence of X chromosome abnormalities is increased in women with fertility problems and that karyotype is the gold standard for their identification. Genetic counseling is recommended in these cases to provide information concerning available treatment and fertility options.

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来源期刊
Cytogenetic and Genome Research
Cytogenetic and Genome Research 生物-细胞生物学
CiteScore
3.10
自引率
5.90%
发文量
25
审稿时长
1 months
期刊介绍: During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.
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