The Silver–Russell syndrome (SRS) is a rare disorder characterized by heterogeneous clinical features, including growth retardation, typical facial dysmorphisms, and body asymmetry. Genetic alterations causative of SRS mostly affect imprinted genes located on chromosomes 7 or 11. Hypomethylation of the Imprinting Center 1 (IC1) of the chromosome 11p15.5 is the most common cause of SRS, while the Imprinting Center 2 (IC2) has been more rarely involved. Specifically, maternally inherited 11p15.5 deletions including the IC2 have been associated with the Beckwith–Wiedemann Syndrome (BWS), while paternal deletions with a variable spectrum of phenotypes. Here, we describe the case of a girl with a mild SRS phenotype associated with a paternally inherited 1.4 kb deletion of IC2. The father of the proband inherited the deletion from his mother and showed normal growth, while the paternal grandmother had the deletion on her paternal chromosome and exhibited short stature. Together with previous findings obtained in mouse and humans, our data support the notion that deletion of the paternal copy of IC2 can cause SRS.

Silver-Russell 综合征 (SRS) 是一种罕见的疾病，其特点是临床特征异质，包括生长迟缓、典型的面部畸形和身体不对称。导致 SRS 的遗传改变主要影响位于 7 号或 11 号染色体上的印迹基因。染色体 11p15.5 的印记中心 1 (IC1) 的低甲基化是 SRS 的最常见原因，而印记中心 2 (IC2) 的低甲基化更为常见。很少参与。具体来说，包括 IC2 在内的母系遗传的 11p15.5 缺失与 Beckwith-Wiedemann 综合征 (BWS) 相关，而父系缺失则具有可变的表型谱。在这里，我们描述了一个与父系遗传的 1.4 kb IC2 缺失相关的轻度 SRS 表型女孩的案例。先证者的父亲遗传了母亲的缺失，发育正常，而祖母的父亲染色体上有缺失，身材矮小。连同先前在小鼠和人类中获得的发现，我们的数据支持这样的观点，即删除 IC2 的父本拷贝会导致 SRS。