Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

IF 2.4 4区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Chromosome Research Pub Date : 2024-07-19 DOI:10.1007/s10577-024-09754-y

Xiali Jiang, Bin Liang, Bilian Chen, Xiaoqing Wu, Yan Wang, Na Lin, Hailong Huang, Liangpu Xu

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引用次数: 0

Abstract

Background: Small supernumerary marker chromosomes (sSMCs) are additional chromosomes with unclear structures and origins, and their correlations with clinical fetal phenotypes remain incompletely understood, which reduces the accuracy of genetic counseling.

Methods: We conducted a retrospective analysis of a cohort of 36 cases of sSMCs diagnosed in our center. We performed G-banding and chromosomal microarray analysis (CMA). The resulting karyotypes were compared with case reports in the literature and various databases including OMIM, DECIPHER, ClinVar, ClinGen, ISCA, DGV, and PubMed.

Results: Karyotype analysis data revealed that 19 out of 36 fetuses were mosaic. Copy number variants (CNVs) analysis results showed that 27 out of 36 fetuses harbored pathogenic/likely pathogenic variants. Among these 27 cases, 11 fetuses carried sex chromosome-related CNVs, including 4 female cases exhibiting Turner syndrome phenotypes and 7 cases showing Y chromosome deletions. In the remaining 16 fetuses with autosomal CNVs, 9 fetuses carried variants associated with Cat eye syndrome, Emanuel syndrome, Tetrasomy 18p, and 15q11-q13 duplication syndrome. Among these, 22 fetuses were terminated, and the remaining 5 fetuses were delivered and developed normally. Additionally, we identified a few variants with unclear pathogenicity.

Conclusion: Cytogenetic analysis is essential for identifying the pathogenicity of sSMCs and increasing the accuracy of genetic counseling.

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中国东部汉族人群小超常标记染色体的产前诊断和遗传分析：36 例病例的回顾性研究。

背景：小的编外标记染色体（sSMCs）是结构和起源不清楚的额外染色体，它们与胎儿临床表型的相关性仍未完全清楚，这降低了遗传咨询的准确性：我们对本中心确诊的 36 例 sSMC 进行了回顾性分析。我们进行了 G 带和染色体微阵列分析（CMA）。我们将所得核型与文献和各种数据库（包括 OMIM、DECIPHER、ClinVar、ClinGen、ISCA、DGV 和 PubMed）中的病例报告进行了比较：结果：核型分析数据显示，36 个胎儿中有 19 个是马赛克胎儿。拷贝数变异（CNVs）分析结果显示，36 个胎儿中有 27 个携带致病/可能致病变异。在这 27 个病例中，11 个胎儿携带与性染色体相关的 CNVs，包括 4 个表现为特纳综合征表型的女性病例和 7 个表现为 Y 染色体缺失的病例。在剩余的 16 个常染色体 CNV 胎儿中，9 个胎儿携带与猫眼综合征、伊曼纽尔综合征、18p 四体综合征和 15q11-q13 重复综合征相关的变异。其中，22 个胎儿被终止妊娠，其余 5 个胎儿分娩后发育正常。此外，我们还发现了一些致病性不明确的变异：细胞遗传学分析对于确定 sSMCs 的致病性和提高遗传咨询的准确性至关重要。

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

Chromosome Research 生物-生化与分子生物学

CiteScore

4.70

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Chromosome Research publishes manuscripts from work based on all organisms and encourages submissions in the following areas including, but not limited, to: · Chromosomes and their linkage to diseases; · Chromosome organization within the nucleus; · Chromatin biology (transcription, non-coding RNA, etc); · Chromosome structure, function and mechanics; · Chromosome and DNA repair; · Epigenetic chromosomal functions (centromeres, telomeres, replication, imprinting, dosage compensation, sex determination, chromosome remodeling); · Architectural/epigenomic organization of the genome; · Functional annotation of the genome; · Functional and comparative genomics in plants and animals; · Karyology studies that help resolve difficult taxonomic problems or that provide clues to fundamental mechanisms of genome and karyotype evolution in plants and animals; · Mitosis and Meiosis; · Cancer cytogenomics.