Abstract：
Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features resulting from a complex rearrangement of chromosome 11 inherited from his mother. We studied the index case with karyotyping, MS-MLPA and molecular karyotyping. The mother was studied with karyotyping and subtelomeric FISH. We found a child with marked developmental delay and fatal outcome due to failure to thrive, carrying an 11p15 duplication and an 11q25 deletion of maternal origin. We discovered that the mother was a carrier of a pericentric inversion of chromosome 11, with a history of recurrence in other family members who had severe growth retardation and early death. To our knowledge, no similar SRS-like cases have been described in the literature. This report supports the importance of identification the causative genetic mechanism in SRS-like individuals with duplication in 11p15 region due to high risk of recurrence and to provide an appropriate genetic counseling to the family.
摘要：
Silver-Russell综合征（SRS）是一种众所周知的综合征，但病因不均匀。我们介绍了一个孩子的情况，该孩子具有严重的SRS样特征，这是由母亲遗传的11号染色体复杂重排引起的。我们用核型分析研究了索引病例，MS-MLPA和分子核型分析。用核型分析和亚端粒FISH研究了母亲。我们发现一个孩子有明显的发育迟缓和致命的结果，由于未能茁壮成长，携带11p15重复和11q25缺失的母体来源。我们发现母亲是11号染色体周围倒位的携带者，在其他有严重生长迟缓和早期死亡的家庭成员中有复发史。据我们所知,文献中没有描述类似SRS的病例.该报告支持由于复发风险高，在11p15区域重复的SRS样个体中鉴定致病遗传机制的重要性，并为该家庭提供适当的遗传咨询。
