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.
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。