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Abstract：
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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：单亲遗传（UPD）是一种罕见的遗传病，会导致潜在的疾病风险。6号染色体upd(6)mat的母体UPD异常罕见，报告的病例有限。这项研究报告了2例新的upd（6）mat病例，并回顾了以前病例的文献。
方法：两例均表现为宫内生长受限(IUGR),和遗传分析证实了在每种情况下upd(6)mat。文献综述共确定19例。IUGR和早产是观察到的最常见的两种症状，在某些情况下，还报告了其他异常和遗传变异。
结论：upd（6）mat可能与IUGR有关，但确切的基因型-表型关系仍不清楚.具有upd（6）mat的病例可能由于印记障碍而表现出临床特征。
方法：两例均表现为宫内生长受限(IUGR),和遗传分析证实了在每种情况下upd(6)mat。文献综述共确定19例。IUGR和早产是观察到的最常见的两种症状，在某些情况下，还报告了其他异常和遗传变异。
结论：upd（6）mat可能与IUGR有关，但确切的基因型-表型关系仍不清楚.具有upd（6）mat的病例可能由于印记障碍而表现出临床特征。
