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  • Title: [Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case].
    Author: Li J, Du J, Fu H, Wang J, Yu Z.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):505-7. PubMed ID: 27455008.
    Abstract:
    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.
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