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威廉斯综合征(WS)由7号染色体长臂11.23(7q11.23)区域的基因微缺失引起,大部分患者的缺失长度为1.5Mb,缺失区域的基因已经明确的有24个。WS具有独特的面容特征、心血管病变等临床特点及特殊的认知表型,主要是该病的认知功能存在明显的不均衡,表现在语言、人脸加工、音乐及社交方面的能力较强,而视觉-空间认知、数字操作、计划和解决问题等能力相对较弱。WS的特殊认知表型与其基因缺陷有关。WS的特殊认知表型及与特定基因之间的关系值得进一步研究。
Williams’s syndrome (WS) is caused by a gene microdeletion in the region of long arm 11.23 (7q11.23) on chromosome 7, with a deletion length of 1.5 Mb for most patients and 24 genes for the deletion region. WS has unique clinical features such as facial features and cardiovascular diseases, as well as special cognitive phenotypes. The main reason is that WS’s cognitive function is obviously imbalanced. Its performance in language, facial processing, music and social functions is relatively poor Strong, while the visual - spatial awareness, digital operations, planning and problem-solving skills are relatively weak. The special cognitive phenotype of WS is related to its gene defect. The special cognitive phenotype of WS and the relationship with specific genes deserve further study.