Bullman H, Lever M, Robinson D O, Mackay D J G, Holder S E, Wakeling E L
J Med Genet. 2008 Jun;45(6):396-9. doi: 10.1136/jmg.2007.057059. Epub 2008 May 12.
Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5-10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11.
Silver-Russell综合征（SRS）是一种临床异质性疾病，主要特征为宫内和出生后生长迟缓。虽然5%至10%的SRS患者存在7号染色体单亲二倍体，但最近报道称，高达64%的患者存在影响11号染色体p15印记中心的基因和表观遗传突变。SRS中报道的11号染色体p15异常包括印记中心1（ICR1）的甲基化缺陷以及涉及11号染色体p15印记区域全部或部分的母系遗传重复。在此，我们报告首例关于11号染色体嵌合型母系单亲二倍体的SRS病例。
