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

作者全名："Jiang, Yan; Xiao, Yang Xue; Xiong, Jiao Jiao; Zhang, Victor Wei; Dong, Chang; Xu, Lei; Liu, Fang"

作者地址："[Jiang, Yan; Xiao, Yang Xue; Xiong, Jiao Jiao; Liu, Fang] Chongqing Med Univ, Women & Childrens Hosp, Chongqing Hlth Ctr Women & Children, Chongqing, Peoples R China; [Zhang, Victor Wei; Dong, Chang; Xu, Lei] AmCare Genom Lab, Guangzhou, Peoples R China"

通信作者："Liu, F (通讯作者)，Chongqing Med Univ, Women & Childrens Hosp, Chongqing Hlth Ctr Women & Children, Chongqing, Peoples R China."

来源：MOLECULAR CYTOGENETICS

ESI学科分类：MOLECULAR BIOLOGY & GENETICS

WOS号：WOS:001137833400001

JCR分区：Q4

影响因子：1.3

年份：2024

卷号：17

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Uniparental disomy; Intrauterine growth restriction; Prenatal diagnosis; Maternal UPD6

摘要："BackgroundUniparental 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 presentationBoth 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.Conclusionupd(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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