Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome.

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2025-08-29 DOI:10.1186/s13039-025-00726-3

Yang Nannan, Yang Yang, Wang Yan, Wang Hao

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Abstract

Background: Prader-Willi Syndrome (PWS) is a complicated genetic disorder demonstrating a variety of clinical phenotypes. Using molecular cytogenetics approaches to detect the deletions of the paternal 15q11-q13 region and maternal uniparental disomy of chromosome 15 plays an important role in the prenatal diagnosis of PWS.

Case presentation: A pregnant woman with advanced maternal age underwent amniocentesis. The amniotic fluid was subjected to karyotyping and chromosomal microarray analysis. A marker without autosomal material and loss of heterozygosity (LOH) of 15q14-q23 were found in the fetus. The LOH was consistent with maternal uniparental isodisomy (UPD) and the marker was inherited from the father. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) found increased methylation in the fetal 15q11.2-q13 region and fluorescence in situ hybridization confirmed the marker was not originated from chromosome 15.

Conclusion: We presented a rare PWS case showing maternal UPD of chromosome 15 with concurrent paternal marker chromosome in the prenatal setting.

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母亲单代15号染色体二体伴父代非15号染色体标记染色体：普莱德-威利综合征的罕见表现。

背景：普瑞德-威利综合征（PWS）是一种复杂的遗传疾病，表现出多种临床表型。利用分子细胞遗传学方法检测父亲15q11-q13区域缺失和母亲15号染色体单亲二体在产前诊断PWS中具有重要作用。病例介绍：一位高龄孕妇行羊膜穿刺术。对羊水进行核型分析和染色体微阵列分析。在胎儿中发现无常染色体物质和15q14-q23杂合性缺失（LOH）的标记。LOH与母亲单亲同染色体（UPD）一致，该标记遗传自父亲。甲基化特异性多重连接依赖探针扩增（MS-MLPA）发现胎儿15q11.2-q13区域甲基化增加，荧光原位杂交证实该标记不是来自15号染色体。结论：我们报告了一例罕见的PWS病例，母体15号染色体UPD并同时存在父亲标记染色体。

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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.