在无畸形特征的产前病例中，用CNV-seq检测到马赛克四体9p，但传统核型未检测到。

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2025-07-14 DOI:10.1186/s13039-025-00720-9

Xingkun Yang, Yasi Zhou, Xiaodan Zhu, Tingting Xiao, Miaoling Ou, Linghua Zhang, Xiang Huang, Xiaoling Guo, Chao Li

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引用次数: 0

摘要

通过对未培养的羊膜细胞进行CNV-seq分析，发现了一例独特的嵌合四体9p病例，该病例在培养的羊膜细胞核型分析中被遗漏。病例报告：经首次羊膜穿刺术测定，核型为46，xy， 9号染色体从p24.3到p13.1存在嵌合复制。随后的产前检查显示核型正常，培养羊膜细胞的FISH分析发现2%的染色体9p四体。脐带血核型显示9p嵌合四体，未培养脐带血CNV-seq显示9p接近完全四体。结论：建议在对培养羊膜细胞进行核型分析的同时，对未培养羊膜细胞进行CNV-seq或CMA检测。在羊膜穿刺术中出现马赛克四体9p可能导致良性状况或不良结果，孕妇面临这种情况时需要知情决策。

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Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features.

Introduction: A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes.

Case report: The karyotype was determined to be 46, XY, with mosaic duplication of chromosome 9 from p24.3 to p13.1 indicated by CNV sequencing in the initial amniocentesis. Subsequent prenatal testing revealed a normal karyotype, with FISH analysis of cultured amniocytes identifying 2% tetrasomy of chromosome 9p. The karyotype of cord blood revealed mosaic tetrasomy 9p, while CNV-seq on uncultured cord blood indicated nearly complete tetrasomy 9p.

Conclusions: It is recommended to conduct CNV-seq or CMA on uncultured amniocytes in conjunction with karyotype analysis on cultured amniocytes. The presence of mosaic tetrasomy 9p during amniocentesis may result in either a benign condition or an adverse outcome, necessitating informed decision-making for pregnant women facing such circumstances.

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.