Rossignol S
Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, Paris, France.
J Endocrinol Invest. 2006;29(1 Suppl):9-10.
Silver-Russell syndrome (SRS) is both clinically and genetically a heterogeneous congenital disorder. Patients are characterised by severe intrauterine and post-natal growth retardation, dysmorphic facial features and, asymmetry. Various chromosome abnormalities have been associated with the disease, involving most often chromosome 7 and 17. In about 7% of sporadic cases, maternal uniparental disomy of chromosome 7 has been detected. Most recent findings suggest that imprinting defects within the 11p15 region also play a role in SRS.
Silver-Russell综合征（SRS）在临床和遗传方面都是一种异质性先天性疾病。患者的特征为严重的宫内和出生后生长发育迟缓、面部畸形特征以及不对称性。多种染色体异常与该疾病相关，最常涉及7号和17号染色体。在约7%的散发病例中，已检测到7号染色体的母源单亲二倍体。最新研究结果表明，11p15区域内的印记缺陷在Silver-Russell综合征中也起作用。
