应用单核苷酸多态性芯片技术诊断Williams—Beuren综合征一例

Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case

目的应用全基因组单核苷酸多态性微阵列芯片（singlenucleotidepolymorphismarray，SNP-array）诊断1例Williams—Beuren综合征（williamsBeurensyndrome，WBS）。方法应用染色体G显带和SNP—array技术对1例以智力低下为主要表现的患儿进行遗传学诊断。结果患儿及父母染色体常规G显带核型未见异常，SNP—array分析显示患儿染色体7q11．23约1．9Mb的缺失，父母双方均未见该缺失。结论患儿智力低下、发育迟缓及特殊面容为7号染色体长臂微缺失所致的Williams—Beuren综合征，应用SNParray技术可弥补G显带核型分析的不足，是临床遗传学诊断智力低下患者的重要技术手段。

Objective To apply single nucleotide polymorphism array （SNP-array） for the diagnosis of Williams-Beuren syndrome （WBS） in a patient. Methods Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation. Results The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents. Conclusion The mental retardation and special facies of the girl were probably due to the 7q11.23 microdeletion. SNP-array has an important value for the diagnosis of mental retardation.