A Fetus with Maternal Uniparental Disomy on Chromosome 20: Case Report with Genetic Analysis and Prenatal Diagnosis

被引：1

作者：

Hu, Li-Qing ^{[1
]}

Deng, Zhen ^{[1
]}

Li, Shu-Na ^{[1
]}

Huang, Wu-Yan ^{[1
]}

Li, Lei ^{[1
]}

Xiao, Ge-Fei ^{[1
]}

Xiao, Qi-Zhi ^{[1
]}

机构：

[1] Zhuhai Ctr Maternal & Child Hlth Care, Zhuhai Inst Med Genet, Dept Med Genet & Prenatal Diag, Zhuhai 519001, Guangdong, Peoples R China

来源：

CLINICAL LABORATORY | 2024年 / 70卷 / 01期

关键词：

uniparental disomy; chromosomal microarray analysis; confined placental mosaicism; genetic mechanism; case report; MOSAICISM;

D O I：

10.7754/Clin.Lab.2023.230647

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Background: A fetus with increased copy number of chromosome 20 was identified by NIPT. Here we utilize several genetic tests and analyses to illuminate the etiology of such aneuploidy. Methods: Amniotic fluid cells were extracted from pregnant woman and sent for karyotype and chromosomal microarray analysis (CMA). Trio pedigree analysis was conducted with Chromosome Analysis Suite and uniparental disomy (UPD)-tool software. Results: CMA identified consistent results, which were 2 regions of homozygosity: arr[GRCh37]20p12.2q11.1 (11265096_26266313)hmz and arr[GRCh37]20q11.21q13.2(29510306_54430467)hmz. The trio pedigree analysis discovered that the fetal chromosome 20 was the entire maternal UPD mosaic with isodisomy and heterodisomy. Conclusions: When a large segment of chromosome is homozygous, appropriate genetic tests are required to find the potential mechanisms for UPD formation.

引用

页码：171 / 174

页数：4

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