15号染色体母源性单亲二体合并父源性非15号染色体标记染色体：普拉德-威利综合征的一种罕见表现。

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

作者信息

Nannan Yang, Yang Yang, Yan Wang, Hao Wang

机构信息

Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang, China.

Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, 310016, Zhejiang, China.

出版信息

Mol Cytogenet. 2025 Aug 29;18(1):22. doi: 10.1186/s13039-025-00726-3.

DOI:10.1186/s13039-025-00726-3

PMID:40883760

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12398091/

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.

摘要

背景

普拉德-威利综合征（PWS）是一种复杂的遗传性疾病，表现出多种临床表型。采用分子细胞遗传学方法检测父源15q11-q13区域的缺失和母源15号染色体单亲二倍体在PWS的产前诊断中起着重要作用。

病例报告

一名高龄孕妇接受了羊膜腔穿刺术。对羊水进行了核型分析和染色体微阵列分析。在胎儿中发现了一个无常染色体物质的标记以及15q14-q23的杂合性缺失（LOH）。该LOH与母源单亲同二倍体（UPD）一致，且该标记物遗传自父亲。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物并非源自15号染色体。