两个产前 IUGR 病例中的母体 6 号染色体单亲断裂：病例报告和文献综述。

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2024-01-03 DOI:10.1186/s13039-023-00670-0

Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu

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引用次数: 0

摘要

背景：单亲裂殖症（UPD）是一种罕见的遗传病，会导致潜在的疾病风险。母体6号染色体UPD upd(6)mat异常罕见，报道的病例有限。本研究报告了两例新的upd(6)mat病例，并回顾了以往病例的文献资料：两例病例均表现为宫内生长受限（IUGR），遗传分析证实每例病例均存在upd(6)mat。文献回顾共发现了 19 个病例。结论：upd(6)mat可能与IUGR有关，但基因型与表型之间的确切关系仍不清楚。结论：upd(6)mat可能与IUGR有关，但基因型与表型之间的确切关系仍不清楚。

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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Background: Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases.

Case presentation: Both cases exhibited intrauterine growth restriction (IUGR), and genetic analysis confirmed upd(6)mat in each case. The literature review identified a total of 19 cases. IUGR and preterm labor were the most common two symptoms observed, and additional anomalies and genetic variations were also reported in some cases.

Conclusion: upd(6)mat is potentially associatied with IUGR, but the precise genotype-phenotype relationship remains unclear. The cases with upd(6)mat may present clinical features due to imprinting disorders.

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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.